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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs121909634

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:38419676 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000 (0/478, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FGFR1 : Missense Variant
Publications
2 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 478 A=1.000 G=0.000
European Sub 0 A=0 G=0
African Sub 426 A=1.000 G=0.000
African Others Sub 0 A=0 G=0
African American Sub 426 A=1.000 G=0.000
Asian Sub 0 A=0 G=0
East Asian Sub 0 A=0 G=0
Other Asian Sub 0 A=0 G=0
Latin American 1 Sub 0 A=0 G=0
Latin American 2 Sub 0 A=0 G=0
South Asian Sub 0 A=0 G=0
Other Sub 52 A=1.00 G=0.00


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 478 A=1.000 G=0.000
Allele Frequency Aggregator African Sub 426 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 52 A=1.00 G=0.00
Allele Frequency Aggregator European Sub 0 A=0 G=0
Allele Frequency Aggregator Latin American 1 Sub 0 A=0 G=0
Allele Frequency Aggregator Latin American 2 Sub 0 A=0 G=0
Allele Frequency Aggregator South Asian Sub 0 A=0 G=0
Allele Frequency Aggregator Asian Sub 0 A=0 G=0
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 8 NC_000008.11:g.38419676A>G
GRCh37.p13 chr 8 NC_000008.10:g.38277194A>G
FGFR1 RefSeqGene (LRG_993) NG_007729.1:g.54159T>C
Gene: FGFR1, fibroblast growth factor receptor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGFR1 transcript variant 12 NM_001174065.2:c.1135T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 2 precursor NP_001167536.1:p.Cys379Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 2 NM_015850.4:c.1135T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 2 precursor NP_056934.2:p.Cys379Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 3 NM_023105.3:c.874T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 3 precursor NP_075593.1:p.Cys292Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 10 NM_001174063.2:c.1141T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 10 precursor NP_001167534.1:p.Cys381Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 11 NM_001174064.2:c.1117T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 11 precursor NP_001167535.1:p.Cys373Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 16 NM_001354368.2:c.868T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 16 precursor NP_001341297.1:p.Cys290Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 13 NM_001174066.2:c.874T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 3 precursor NP_001167537.1:p.Cys292Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 4 NM_023106.3:c.868T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 4 precursor NP_075594.1:p.Cys290Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 1 NM_023110.3:c.1141T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 1 precursor NP_075598.2:p.Cys381Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 18 NM_001354370.2:c.868T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 18 precursor NP_001341299.1:p.Cys290Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 14 NM_001174067.2:c.1234T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 14 precursor NP_001167538.1:p.Cys412Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 15 NM_001354367.2:c.1135T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 15 precursor NP_001341296.1:p.Cys379Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant 17 NM_001354369.2:c.1135T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 17 precursor NP_001341298.1:p.Cys379Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X31 XM_011544452.3:c. N/A Genic Downstream Transcript Variant
FGFR1 transcript variant X30 XM_017013231.2:c. N/A Genic Downstream Transcript Variant
FGFR1 transcript variant X21 XM_006716311.1:c.874T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X19 XP_006716374.1:p.Cys292Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X24 XM_011544451.1:c.850T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X21 XP_011542753.1:p.Cys284Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X11 XM_024447097.1:c.1117T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X10 XP_024302865.1:p.Cys373Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X22 XM_006716312.2:c.874T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X19 XP_006716375.1:p.Cys292Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X1 XM_011544445.3:c.1240T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X1 XP_011542747.1:p.Cys414Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X2 XM_011544444.2:c.1234T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X2 XP_011542746.1:p.Cys412Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X3 XM_017013219.2:c.1234T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X3 XP_016868708.1:p.Cys412Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X4 XM_011544446.3:c.1240T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X4 XP_011542748.1:p.Cys414Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X5 XM_011544447.3:c.1240T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X5 XP_011542749.1:p.Cys414Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X6 XM_017013220.2:c.1234T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X6 XP_016868709.1:p.Cys412Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X7 XM_006716304.2:c.1141T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X7 XP_006716367.1:p.Cys381Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X8 XM_017013221.2:c.1141T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X7 XP_016868710.1:p.Cys381Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X9 XM_006716307.2:c.1135T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X8 XP_006716370.1:p.Cys379Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X10 XM_047421569.1:c.1135T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X9 XP_047277525.1:p.Cys379Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X12 XM_047421570.1:c.1141T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X11 XP_047277526.1:p.Cys381Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X13 XM_047421571.1:c.1135T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X12 XP_047277527.1:p.Cys379Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X13 XM_017013225.3:c.1135T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X12 XP_016868714.1:p.Cys379Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X14 XM_006716303.4:c.1141T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X7 XP_006716366.1:p.Cys381Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X15 XM_011544448.2:c.973T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X13 XP_011542750.1:p.Cys325Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X16 XM_011544449.2:c.967T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X14 XP_011542751.1:p.Cys323Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X17 XM_047421572.1:c.967T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X15 XP_047277528.1:p.Cys323Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X18 XM_011544450.3:c.967T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X16 XP_011542752.1:p.Cys323Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X19 XM_017013226.2:c.973T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X17 XP_016868715.1:p.Cys325Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X20 XM_017013227.2:c.967T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X18 XP_016868716.1:p.Cys323Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X23 XM_006716314.3:c.868T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X20 XP_006716377.1:p.Cys290Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X25 XM_047421573.1:c.874T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X22 XP_047277529.1:p.Cys292Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X26 XM_047421574.1:c.868T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X23 XP_047277530.1:p.Cys290Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X27 XM_006716310.4:c.874T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X19 XP_006716373.1:p.Cys292Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X28 XM_047421575.1:c.1240T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X24 XP_047277531.1:p.Cys414Arg C (Cys) > R (Arg) Missense Variant
FGFR1 transcript variant X29 XM_047421576.1:c.697T>C C [TGC] > R [CGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X25 XP_047277532.1:p.Cys233Arg C (Cys) > R (Arg) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 31329 )
ClinVar Accession Disease Names Clinical Significance
RCV000017682.27 Osteoglophonic dysplasia Pathogenic
RCV002254904.2 not provided Likely-Pathogenic
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= G
GRCh38.p14 chr 8 NC_000008.11:g.38419676= NC_000008.11:g.38419676A>G
GRCh37.p13 chr 8 NC_000008.10:g.38277194= NC_000008.10:g.38277194A>G
FGFR1 RefSeqGene (LRG_993) NG_007729.1:g.54159= NG_007729.1:g.54159T>C
FGFR1 transcript variant 2 NM_015850.4:c.1135= NM_015850.4:c.1135T>C
FGFR1 transcript variant 2 NM_015850.3:c.1135= NM_015850.3:c.1135T>C
FGFR1 transcript variant 1 NM_023110.3:c.1141= NM_023110.3:c.1141T>C
FGFR1 transcript variant 1 NM_023110.2:c.1141= NM_023110.2:c.1141T>C
FGFR1 transcript variant 3 NM_023105.3:c.874= NM_023105.3:c.874T>C
FGFR1 transcript variant 3 NM_023105.2:c.874= NM_023105.2:c.874T>C
FGFR1 transcript variant 4 NM_023106.3:c.868= NM_023106.3:c.868T>C
FGFR1 transcript variant 4 NM_023106.2:c.868= NM_023106.2:c.868T>C
FGFR1 transcript variant 11 NM_001174064.2:c.1117= NM_001174064.2:c.1117T>C
FGFR1 transcript variant 11 NM_001174064.1:c.1117= NM_001174064.1:c.1117T>C
FGFR1 transcript variant 10 NM_001174063.2:c.1141= NM_001174063.2:c.1141T>C
FGFR1 transcript variant 10 NM_001174063.1:c.1141= NM_001174063.1:c.1141T>C
FGFR1 transcript variant 16 NM_001354368.2:c.868= NM_001354368.2:c.868T>C
FGFR1 transcript variant 16 NM_001354368.1:c.868= NM_001354368.1:c.868T>C
FGFR1 transcript variant 14 NM_001174067.2:c.1234= NM_001174067.2:c.1234T>C
FGFR1 transcript variant 14 NM_001174067.1:c.1234= NM_001174067.1:c.1234T>C
FGFR1 transcript variant 12 NM_001174065.2:c.1135= NM_001174065.2:c.1135T>C
FGFR1 transcript variant 12 NM_001174065.1:c.1135= NM_001174065.1:c.1135T>C
FGFR1 transcript variant 13 NM_001174066.2:c.874= NM_001174066.2:c.874T>C
FGFR1 transcript variant 13 NM_001174066.1:c.874= NM_001174066.1:c.874T>C
FGFR1 transcript variant 15 NM_001354367.2:c.1135= NM_001354367.2:c.1135T>C
FGFR1 transcript variant 15 NM_001354367.1:c.1135= NM_001354367.1:c.1135T>C
FGFR1 transcript variant 18 NM_001354370.2:c.868= NM_001354370.2:c.868T>C
FGFR1 transcript variant 18 NM_001354370.1:c.868= NM_001354370.1:c.868T>C
FGFR1 transcript variant 17 NM_001354369.2:c.1135= NM_001354369.2:c.1135T>C
FGFR1 transcript variant 17 NM_001354369.1:c.1135= NM_001354369.1:c.1135T>C
FGFR1 transcript variant 19 NM_001410922.1:c.1135= NM_001410922.1:c.1135T>C
FGFR1 transcript variant X14 XM_006716303.4:c.1141= XM_006716303.4:c.1141T>C
FGFR1 transcript variant X8 XM_006716303.3:c.1141= XM_006716303.3:c.1141T>C
FGFR1 transcript variant X8 XM_006716303.2:c.1141= XM_006716303.2:c.1141T>C
FGFR1 transcript variant X1 XM_006716303.1:c.1141= XM_006716303.1:c.1141T>C
FGFR1 transcript variant X27 XM_006716310.4:c.874= XM_006716310.4:c.874T>C
FGFR1 transcript variant X21 XM_006716310.3:c.874= XM_006716310.3:c.874T>C
FGFR1 transcript variant X23 XM_006716310.2:c.874= XM_006716310.2:c.874T>C
FGFR1 transcript variant X8 XM_006716310.1:c.874= XM_006716310.1:c.874T>C
FGFR1 transcript variant X13 XM_017013225.3:c.1135= XM_017013225.3:c.1135T>C
FGFR1 transcript variant X15 XM_017013225.2:c.1135= XM_017013225.2:c.1135T>C
FGFR1 transcript variant X17 XM_017013225.1:c.1135= XM_017013225.1:c.1135T>C
FGFR1 transcript variant X4 XM_011544446.3:c.1240= XM_011544446.3:c.1240T>C
FGFR1 transcript variant X5 XM_011544446.2:c.1240= XM_011544446.2:c.1240T>C
FGFR1 transcript variant X4 XM_011544446.1:c.1240= XM_011544446.1:c.1240T>C
FGFR1 transcript variant X5 XM_011544447.3:c.1240= XM_011544447.3:c.1240T>C
FGFR1 transcript variant X6 XM_011544447.2:c.1240= XM_011544447.2:c.1240T>C
FGFR1 transcript variant X5 XM_011544447.1:c.1240= XM_011544447.1:c.1240T>C
FGFR1 transcript variant X18 XM_011544450.3:c.967= XM_011544450.3:c.967T>C
FGFR1 transcript variant X18 XM_011544450.2:c.967= XM_011544450.2:c.967T>C
FGFR1 transcript variant X14 XM_011544450.1:c.967= XM_011544450.1:c.967T>C
FGFR1 transcript variant X1 XM_011544445.3:c.1240= XM_011544445.3:c.1240T>C
FGFR1 transcript variant X3 XM_011544445.2:c.1240= XM_011544445.2:c.1240T>C
FGFR1 transcript variant X3 XM_011544445.1:c.1240= XM_011544445.1:c.1240T>C
FGFR1 transcript variant X23 XM_006716314.3:c.868= XM_006716314.3:c.868T>C
FGFR1 transcript variant X24 XM_006716314.2:c.868= XM_006716314.2:c.868T>C
FGFR1 transcript variant X27 XM_006716314.1:c.868= XM_006716314.1:c.868T>C
FGFR1 transcript variant 9 NM_023111.2:c.1141= NM_023111.2:c.1141T>C
FGFR1 transcript variant X6 XM_017013220.2:c.1234= XM_017013220.2:c.1234T>C
FGFR1 transcript variant X7 XM_017013220.1:c.1234= XM_017013220.1:c.1234T>C
FGFR1 transcript variant X19 XM_017013226.2:c.973= XM_017013226.2:c.973T>C
FGFR1 transcript variant X19 XM_017013226.1:c.973= XM_017013226.1:c.973T>C
FGFR1 transcript variant X20 XM_017013227.2:c.967= XM_017013227.2:c.967T>C
FGFR1 transcript variant X20 XM_017013227.1:c.967= XM_017013227.1:c.967T>C
FGFR1 transcript variant 1 NM_000604.2:c.1141= NM_000604.2:c.1141T>C
FGFR1 transcript variant X8 XM_017013221.2:c.1141= XM_017013221.2:c.1141T>C
FGFR1 transcript variant X10 XM_017013221.1:c.1141= XM_017013221.1:c.1141T>C
FGFR1 transcript variant X2 XM_011544444.2:c.1234= XM_011544444.2:c.1234T>C
FGFR1 transcript variant X2 XM_011544444.1:c.1234= XM_011544444.1:c.1234T>C
FGFR1 transcript variant X3 XM_017013219.2:c.1234= XM_017013219.2:c.1234T>C
FGFR1 transcript variant X4 XM_017013219.1:c.1234= XM_017013219.1:c.1234T>C
FGFR1 transcript variant X7 XM_006716304.2:c.1141= XM_006716304.2:c.1141T>C
FGFR1 transcript variant X9 XM_006716304.1:c.1141= XM_006716304.1:c.1141T>C
FGFR1 transcript variant X9 XM_006716307.2:c.1135= XM_006716307.2:c.1135T>C
FGFR1 transcript variant X11 XM_006716307.1:c.1135= XM_006716307.1:c.1135T>C
FGFR1 transcript variant X22 XM_006716312.2:c.874= XM_006716312.2:c.874T>C
FGFR1 transcript variant X25 XM_006716312.1:c.874= XM_006716312.1:c.874T>C
FGFR1 transcript variant X15 XM_011544448.2:c.973= XM_011544448.2:c.973T>C
FGFR1 transcript variant X16 XM_011544448.1:c.973= XM_011544448.1:c.973T>C
FGFR1 transcript variant X16 XM_011544449.2:c.967= XM_011544449.2:c.967T>C
FGFR1 transcript variant X17 XM_011544449.1:c.967= XM_011544449.1:c.967T>C
FLJ14326 transcript NM_032191.1:c.*1047= NM_032191.1:c.*1047T>C
FGFR1 transcript variant X12 XM_047421570.1:c.1141= XM_047421570.1:c.1141T>C
FGFR1 transcript variant X13 XM_047421571.1:c.1135= XM_047421571.1:c.1135T>C
FGFR1 transcript variant X25 XM_047421573.1:c.874= XM_047421573.1:c.874T>C
FGFR1 transcript variant X26 XM_047421574.1:c.868= XM_047421574.1:c.868T>C
FGFR1 transcript variant X29 XM_047421576.1:c.697= XM_047421576.1:c.697T>C
FGFR1 transcript variant X10 XM_047421569.1:c.1135= XM_047421569.1:c.1135T>C
FGFR1 transcript variant 7 NM_023109.1:c.1141= NM_023109.1:c.1141T>C
FGFR1 transcript variant 9 NM_023111.1:c.1141= NM_023111.1:c.1141T>C
FGFR1 transcript variant X11 XM_024447097.1:c.1117= XM_024447097.1:c.1117T>C
FGFR1 transcript variant X17 XM_047421572.1:c.967= XM_047421572.1:c.967T>C
FGFR1 transcript variant X21 XM_006716311.1:c.874= XM_006716311.1:c.874T>C
FGFR1 transcript variant X24 XM_011544451.1:c.850= XM_011544451.1:c.850T>C
FGFR1 transcript NM_000604.1:c.1141= NM_000604.1:c.1141T>C
FGFR1 transcript variant X28 XM_047421575.1:c.1240= XM_047421575.1:c.1240T>C
fibroblast growth factor receptor 1 isoform 2 precursor NP_056934.2:p.Cys379= NP_056934.2:p.Cys379Arg
fibroblast growth factor receptor 1 isoform 1 precursor NP_075598.2:p.Cys381= NP_075598.2:p.Cys381Arg
fibroblast growth factor receptor 1 isoform 3 precursor NP_075593.1:p.Cys292= NP_075593.1:p.Cys292Arg
fibroblast growth factor receptor 1 isoform 4 precursor NP_075594.1:p.Cys290= NP_075594.1:p.Cys290Arg
fibroblast growth factor receptor 1 isoform 11 precursor NP_001167535.1:p.Cys373= NP_001167535.1:p.Cys373Arg
fibroblast growth factor receptor 1 isoform 10 precursor NP_001167534.1:p.Cys381= NP_001167534.1:p.Cys381Arg
fibroblast growth factor receptor 1 isoform 16 precursor NP_001341297.1:p.Cys290= NP_001341297.1:p.Cys290Arg
fibroblast growth factor receptor 1 isoform 14 precursor NP_001167538.1:p.Cys412= NP_001167538.1:p.Cys412Arg
fibroblast growth factor receptor 1 isoform 2 precursor NP_001167536.1:p.Cys379= NP_001167536.1:p.Cys379Arg
fibroblast growth factor receptor 1 isoform 3 precursor NP_001167537.1:p.Cys292= NP_001167537.1:p.Cys292Arg
fibroblast growth factor receptor 1 isoform 15 precursor NP_001341296.1:p.Cys379= NP_001341296.1:p.Cys379Arg
fibroblast growth factor receptor 1 isoform 18 precursor NP_001341299.1:p.Cys290= NP_001341299.1:p.Cys290Arg
fibroblast growth factor receptor 1 isoform 17 precursor NP_001341298.1:p.Cys379= NP_001341298.1:p.Cys379Arg
fibroblast growth factor receptor 1 isoform X7 XP_006716366.1:p.Cys381= XP_006716366.1:p.Cys381Arg
fibroblast growth factor receptor 1 isoform X19 XP_006716373.1:p.Cys292= XP_006716373.1:p.Cys292Arg
fibroblast growth factor receptor 1 isoform X12 XP_016868714.1:p.Cys379= XP_016868714.1:p.Cys379Arg
fibroblast growth factor receptor 1 isoform X4 XP_011542748.1:p.Cys414= XP_011542748.1:p.Cys414Arg
fibroblast growth factor receptor 1 isoform X5 XP_011542749.1:p.Cys414= XP_011542749.1:p.Cys414Arg
fibroblast growth factor receptor 1 isoform X16 XP_011542752.1:p.Cys323= XP_011542752.1:p.Cys323Arg
fibroblast growth factor receptor 1 isoform X1 XP_011542747.1:p.Cys414= XP_011542747.1:p.Cys414Arg
fibroblast growth factor receptor 1 isoform X20 XP_006716377.1:p.Cys290= XP_006716377.1:p.Cys290Arg
fibroblast growth factor receptor 1 isoform X6 XP_016868709.1:p.Cys412= XP_016868709.1:p.Cys412Arg
fibroblast growth factor receptor 1 isoform X17 XP_016868715.1:p.Cys325= XP_016868715.1:p.Cys325Arg
fibroblast growth factor receptor 1 isoform X18 XP_016868716.1:p.Cys323= XP_016868716.1:p.Cys323Arg
fibroblast growth factor receptor 1 isoform X7 XP_016868710.1:p.Cys381= XP_016868710.1:p.Cys381Arg
fibroblast growth factor receptor 1 isoform X2 XP_011542746.1:p.Cys412= XP_011542746.1:p.Cys412Arg
fibroblast growth factor receptor 1 isoform X3 XP_016868708.1:p.Cys412= XP_016868708.1:p.Cys412Arg
fibroblast growth factor receptor 1 isoform X7 XP_006716367.1:p.Cys381= XP_006716367.1:p.Cys381Arg
fibroblast growth factor receptor 1 isoform X8 XP_006716370.1:p.Cys379= XP_006716370.1:p.Cys379Arg
fibroblast growth factor receptor 1 isoform X19 XP_006716375.1:p.Cys292= XP_006716375.1:p.Cys292Arg
fibroblast growth factor receptor 1 isoform X13 XP_011542750.1:p.Cys325= XP_011542750.1:p.Cys325Arg
fibroblast growth factor receptor 1 isoform X14 XP_011542751.1:p.Cys323= XP_011542751.1:p.Cys323Arg
fibroblast growth factor receptor 1 isoform X11 XP_047277526.1:p.Cys381= XP_047277526.1:p.Cys381Arg
fibroblast growth factor receptor 1 isoform X12 XP_047277527.1:p.Cys379= XP_047277527.1:p.Cys379Arg
fibroblast growth factor receptor 1 isoform X22 XP_047277529.1:p.Cys292= XP_047277529.1:p.Cys292Arg
fibroblast growth factor receptor 1 isoform X23 XP_047277530.1:p.Cys290= XP_047277530.1:p.Cys290Arg
fibroblast growth factor receptor 1 isoform X25 XP_047277532.1:p.Cys233= XP_047277532.1:p.Cys233Arg
fibroblast growth factor receptor 1 isoform X9 XP_047277525.1:p.Cys379= XP_047277525.1:p.Cys379Arg
fibroblast growth factor receptor 1 isoform X10 XP_024302865.1:p.Cys373= XP_024302865.1:p.Cys373Arg
fibroblast growth factor receptor 1 isoform X15 XP_047277528.1:p.Cys323= XP_047277528.1:p.Cys323Arg
fibroblast growth factor receptor 1 isoform X19 XP_006716374.1:p.Cys292= XP_006716374.1:p.Cys292Arg
fibroblast growth factor receptor 1 isoform X21 XP_011542753.1:p.Cys284= XP_011542753.1:p.Cys284Arg
fibroblast growth factor receptor 1 isoform X24 XP_047277531.1:p.Cys414= XP_047277531.1:p.Cys414Arg
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

3 SubSNP, 1 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss263197876 Nov 04, 2010 (133)
2 NCBI-CURATED-RECORDS ss537713166 Jan 04, 2013 (137)
3 ILLUMINA ss3726531636 Jul 13, 2019 (153)
4 ALFA NC_000008.11 - 38419676 Apr 26, 2021 (155)
5 ClinVar RCV000017682.27 Oct 17, 2022 (156)
6 ClinVar RCV002254904.2 Oct 17, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
RCV000017682.27, RCV002254904.2, 1593352770, ss263197876, ss537713166, ss3726531636 NC_000008.11:38419675:A:G NC_000008.11:38419675:A:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs121909634
PMID Title Author Year Journal
7422392 Osteoglophonic dwarfism. Beighton P et al. 1980 Pediatric radiology
16470795 Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. Farrow EG et al. 2006 American journal of medical genetics. Part A
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07