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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs121909631

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr8:38419696 (GRCh38.p7) 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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
FGFR1 : Missense Variant
Publications
1 citation
Genomic View
See rs on genome
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.p7 chr 8 NC_000008.11:g.38419696T>C
GRCh37.p13 chr 8 NC_000008.10:g.38277214T>C
FGFR1 RefSeqGene (LRG_993) NG_007729.1:g.54139A>G
Gene: FGFR1, fibroblast growth factor receptor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGFR1 transcript variant 2 NM_015850.3:c.111...

NM_015850.3:c.1115A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 2 precursor NP_056934.2:p.Tyr...

NP_056934.2:p.Tyr372Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant 4 NM_023106.2:c.848A>G Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 4 precursor NP_075594.1:p.Tyr...

NP_075594.1:p.Tyr283Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant 3 NM_023105.2:c.854A>G Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 3 precursor NP_075593.1:p.Tyr...

NP_075593.1:p.Tyr285Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant 1 NM_023110.2:c.112...

NM_023110.2:c.1121A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 1 precursor NP_075598.2:p.Tyr...

NP_075598.2:p.Tyr374Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant 10 NM_001174063.1:c....

NM_001174063.1:c.1121A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 10 precursor NP_001167534.1:p....

NP_001167534.1:p.Tyr374Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant 11 NM_001174064.1:c....

NM_001174064.1:c.1097A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 11 precursor NP_001167535.1:p....

NP_001167535.1:p.Tyr366Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant 12 NM_001174065.1:c....

NM_001174065.1:c.1115A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 2 precursor NP_001167536.1:p....

NP_001167536.1:p.Tyr372Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant 13 NM_001174066.1:c....

NM_001174066.1:c.854A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 3 precursor NP_001167537.1:p....

NP_001167537.1:p.Tyr285Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant 14 NM_001174067.1:c....

NM_001174067.1:c.1214A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform 14 precursor NP_001167538.1:p....

NP_001167538.1:p.Tyr405Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X31 XM_011544452.2:c. N/A Genic Downstream Transcript Variant
FGFR1 transcript variant X30 XM_017013231.1:c. N/A Genic Downstream Transcript Variant
FGFR1 transcript variant X9 XM_006716304.1:c....

XM_006716304.1:c.1121A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X8 XP_006716367.1:p....

XP_006716367.1:p.Tyr374Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X11 XM_006716307.1:c....

XM_006716307.1:c.1115A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X9 XP_006716370.1:p....

XP_006716370.1:p.Tyr372Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X22 XM_006716311.1:c....

XM_006716311.1:c.854A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X18 XP_006716374.1:p....

XP_006716374.1:p.Tyr285Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X25 XM_006716312.1:c....

XM_006716312.1:c.854A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X18 XP_006716375.1:p....

XP_006716375.1:p.Tyr285Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X27 XM_006716314.1:c....

XM_006716314.1:c.848A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X19 XP_006716377.1:p....

XP_006716377.1:p.Tyr283Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X2 XM_011544444.1:c....

XM_011544444.1:c.1214A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X2 XP_011542746.1:p....

XP_011542746.1:p.Tyr405Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X8 XM_006716303.2:c....

XM_006716303.2:c.1121A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X8 XP_006716366.1:p....

XP_006716366.1:p.Tyr374Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X11 XM_006716306.2:c....

XM_006716306.2:c.1115A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X9 XP_006716369.1:p....

XP_006716369.1:p.Tyr372Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X16 XM_011544448.1:c....

XM_011544448.1:c.953A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X13 XP_011542750.1:p....

XP_011542750.1:p.Tyr318Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X17 XM_011544449.1:c....

XM_011544449.1:c.947A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X14 XP_011542751.1:p....

XP_011542751.1:p.Tyr316Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X23 XM_006716310.2:c....

XM_006716310.2:c.854A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X18 XP_006716373.1:p....

XP_006716373.1:p.Tyr285Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X26 XM_006716313.2:c....

XM_006716313.2:c.848A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X20 XP_006716376.1:p....

XP_006716376.1:p.Tyr283Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X25 XM_011544451.1:c....

XM_011544451.1:c.830A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X20 XP_011542753.1:p....

XP_011542753.1:p.Tyr277Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X1 XM_011544443.2:c....

XM_011544443.2:c.1220A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X1 XP_011542745.1:p....

XP_011542745.1:p.Tyr407Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X3 XM_011544445.2:c....

XM_011544445.2:c.1220A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X3 XP_011542747.1:p....

XP_011542747.1:p.Tyr407Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X4 XM_017013219.1:c....

XM_017013219.1:c.1214A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X4 XP_016868708.1:p....

XP_016868708.1:p.Tyr405Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X5 XM_011544446.2:c....

XM_011544446.2:c.1220A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X5 XP_011542748.1:p....

XP_011542748.1:p.Tyr407Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X6 XM_011544447.2:c....

XM_011544447.2:c.1220A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X6 XP_011542749.1:p....

XP_011542749.1:p.Tyr407Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X7 XM_017013220.1:c....

XM_017013220.1:c.1214A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X7 XP_016868709.1:p....

XP_016868709.1:p.Tyr405Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X10 XM_017013221.1:c....

XM_017013221.1:c.1121A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X8 XP_016868710.1:p....

XP_016868710.1:p.Tyr374Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X13 XM_017013222.1:c....

XM_017013222.1:c.1121A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X10 XP_016868711.1:p....

XP_016868711.1:p.Tyr374Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X14 XM_017013223.1:c....

XM_017013223.1:c.1115A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X11 XP_016868712.1:p....

XP_016868712.1:p.Tyr372Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X15 XM_006716309.3:c....

XM_006716309.3:c.1097A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X12 XP_006716372.1:p....

XP_006716372.1:p.Tyr366Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X16 XM_017013224.1:c....

XM_017013224.1:c.1115A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X12 XP_016868713.1:p....

XP_016868713.1:p.Tyr372Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X17 XM_017013225.1:c....

XM_017013225.1:c.1115A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X12 XP_016868714.1:p....

XP_016868714.1:p.Tyr372Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X18 XM_011544450.2:c....

XM_011544450.2:c.947A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X15 XP_011542752.1:p....

XP_011542752.1:p.Tyr316Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X19 XM_017013226.1:c....

XM_017013226.1:c.953A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X16 XP_016868715.1:p....

XP_016868715.1:p.Tyr318Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X20 XM_017013227.1:c....

XM_017013227.1:c.947A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X17 XP_016868716.1:p....

XP_016868716.1:p.Tyr316Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X29 XM_017013228.1:c....

XM_017013228.1:c.848A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X22 XP_016868717.1:p....

XP_016868717.1:p.Tyr283Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X32 XM_017013229.1:c....

XM_017013229.1:c.155A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X21 XP_016868718.1:p....

XP_016868718.1:p.Tyr52Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X29 XM_017013230.1:c....

XM_017013230.1:c.155A>G

Y [TAC] > C [TGC] Coding Sequence Variant
fibroblast growth factor receptor 1 isoform X22 XP_016868719.1:p....

XP_016868719.1:p.Tyr52Cys

Y (Tyr) > C (Cys) Missense Variant
FGFR1 transcript variant X26 XR_001745495.1:n....

XR_001745495.1:n.1369A>G

N/A Non Coding Transcript Variant
FGFR1 transcript variant X27 XR_001745496.1:n....

XR_001745496.1:n.1369A>G

N/A Non Coding Transcript 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: C (allele ID: 31326 )
ClinVar Accession Disease Names Clinical Significance
RCV000017679.28 Osteoglophonic dysplasia Pathogenic
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").

None
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 T= C Note
GRCh38.p7 chr 8 NC_000008.11:g.38419696T= NC_000008.11:g.38419696T>C
GRCh37.p13 chr 8 NC_000008.10:g.38277214T= NC_000008.10:g.38277214T>C
FGFR1 RefSeqGene (LRG_993) NG_007729.1:g.54139A= NG_007729.1:g.54139A>G
FGFR1 transcript variant 2 NM_015850.3:c.1115A= NM_015850.3:c.1115A>G
FGFR1 transcript variant 1 NM_023110.2:c.1121A= NM_023110.2:c.1121A>G
FGFR1 transcript variant 3 NM_023105.2:c.854A= NM_023105.2:c.854A>G
FGFR1 transcript variant 4 NM_023106.2:c.848A= NM_023106.2:c.848A>G
FGFR1 transcript variant 11 NM_001174064.1:c.1097A= NM_001174064.1:c.1097A>G
FGFR1 transcript variant 10 NM_001174063.1:c.1121A= NM_001174063.1:c.1121A>G
FGFR1 transcript variant 14 NM_001174067.1:c.1214A= NM_001174067.1:c.1214A>G
FGFR1 transcript variant 12 NM_001174065.1:c.1115A= NM_001174065.1:c.1115A>G
FGFR1 transcript variant 13 NM_001174066.1:c.854A= NM_001174066.1:c.854A>G
FGFR1 transcript variant X15 XM_006716309.3:c.1097A= XM_006716309.3:c.1097A>G
FGFR1 transcript variant X5 XM_011544446.2:c.1220A= XM_011544446.2:c.1220A>G
FGFR1 transcript variant X6 XM_011544447.2:c.1220A= XM_011544447.2:c.1220A>G
FGFR1 transcript variant X18 XM_011544450.2:c.947A= XM_011544450.2:c.947A>G
FGFR1 transcript variant X8 XM_006716303.2:c.1121A= XM_006716303.2:c.1121A>G
FGFR1 transcript variant X11 XM_006716306.2:c.1115A= XM_006716306.2:c.1115A>G
FGFR1 transcript variant X23 XM_006716310.2:c.854A= XM_006716310.2:c.854A>G
FGFR1 transcript variant X26 XM_006716313.2:c.848A= XM_006716313.2:c.848A>G
FGFR1 transcript variant X3 XM_011544445.2:c.1220A= XM_011544445.2:c.1220A>G
FGFR1 transcript variant X1 XM_011544443.2:c.1220A= XM_011544443.2:c.1220A>G
FGFR1 transcript variant X29 XM_017013230.1:c.155A= XM_017013230.1:c.155A>G
FGFR1 transcript variant X16 XM_017013224.1:c.1115A= XM_017013224.1:c.1115A>G
FGFR1 transcript variant X29 XM_017013228.1:c.848A= XM_017013228.1:c.848A>G
FGFR1 transcript variant X7 XM_017013220.1:c.1214A= XM_017013220.1:c.1214A>G
FGFR1 transcript variant X17 XM_017013225.1:c.1115A= XM_017013225.1:c.1115A>G
FGFR1 transcript variant X19 XM_017013226.1:c.953A= XM_017013226.1:c.953A>G
FGFR1 transcript variant X20 XM_017013227.1:c.947A= XM_017013227.1:c.947A>G
FGFR1 transcript variant X13 XM_017013222.1:c.1121A= XM_017013222.1:c.1121A>G
FGFR1 transcript variant X10 XM_017013221.1:c.1121A= XM_017013221.1:c.1121A>G
FGFR1 transcript variant X32 XM_017013229.1:c.155A= XM_017013229.1:c.155A>G
FGFR1 transcript variant X27 XR_001745496.1:n.1369A= XR_001745496.1:n.1369A>G
FGFR1 transcript variant X9 XM_006716304.1:c.1121A= XM_006716304.1:c.1121A>G
FGFR1 transcript variant X11 XM_006716307.1:c.1115A= XM_006716307.1:c.1115A>G
FGFR1 transcript variant X14 XM_017013223.1:c.1115A= XM_017013223.1:c.1115A>G
FGFR1 transcript variant X4 XM_017013219.1:c.1214A= XM_017013219.1:c.1214A>G
FGFR1 transcript variant X2 XM_011544444.1:c.1214A= XM_011544444.1:c.1214A>G
FGFR1 transcript variant X27 XM_006716314.1:c.848A= XM_006716314.1:c.848A>G
FGFR1 transcript variant X25 XM_006716312.1:c.854A= XM_006716312.1:c.854A>G
FGFR1 transcript variant X26 XR_001745495.1:n.1369A= XR_001745495.1:n.1369A>G
FGFR1 transcript variant X22 XM_006716311.1:c.854A= XM_006716311.1:c.854A>G
FGFR1 transcript variant X16 XM_011544448.1:c.953A= XM_011544448.1:c.953A>G
FGFR1 transcript variant X17 XM_011544449.1:c.947A= XM_011544449.1:c.947A>G
FGFR1 transcript variant X25 XM_011544451.1:c.830A= XM_011544451.1:c.830A>G
fibroblast growth factor receptor 1 isoform 2 precursor NP_056934.2:p.Tyr372= NP_056934.2:p.Tyr372Cys
fibroblast growth factor receptor 1 isoform 1 precursor NP_075598.2:p.Tyr374= NP_075598.2:p.Tyr374Cys
fibroblast growth factor receptor 1 isoform 3 precursor NP_075593.1:p.Tyr285= NP_075593.1:p.Tyr285Cys
fibroblast growth factor receptor 1 isoform 4 precursor NP_075594.1:p.Tyr283= NP_075594.1:p.Tyr283Cys
fibroblast growth factor receptor 1 isoform 11 precursor NP_001167535.1:p.Tyr366= NP_001167535.1:p.Tyr366Cys
fibroblast growth factor receptor 1 isoform 10 precursor NP_001167534.1:p.Tyr374= NP_001167534.1:p.Tyr374Cys
fibroblast growth factor receptor 1 isoform 14 precursor NP_001167538.1:p.Tyr405= NP_001167538.1:p.Tyr405Cys
fibroblast growth factor receptor 1 isoform 2 precursor NP_001167536.1:p.Tyr372= NP_001167536.1:p.Tyr372Cys
fibroblast growth factor receptor 1 isoform 3 precursor NP_001167537.1:p.Tyr285= NP_001167537.1:p.Tyr285Cys
fibroblast growth factor receptor 1 isoform X12 XP_006716372.1:p.Tyr366= XP_006716372.1:p.Tyr366Cys
fibroblast growth factor receptor 1 isoform X5 XP_011542748.1:p.Tyr407= XP_011542748.1:p.Tyr407Cys
fibroblast growth factor receptor 1 isoform X6 XP_011542749.1:p.Tyr407= XP_011542749.1:p.Tyr407Cys
fibroblast growth factor receptor 1 isoform X15 XP_011542752.1:p.Tyr316= XP_011542752.1:p.Tyr316Cys
fibroblast growth factor receptor 1 isoform X8 XP_006716366.1:p.Tyr374= XP_006716366.1:p.Tyr374Cys
fibroblast growth factor receptor 1 isoform X9 XP_006716369.1:p.Tyr372= XP_006716369.1:p.Tyr372Cys
fibroblast growth factor receptor 1 isoform X18 XP_006716373.1:p.Tyr285= XP_006716373.1:p.Tyr285Cys
fibroblast growth factor receptor 1 isoform X20 XP_006716376.1:p.Tyr283= XP_006716376.1:p.Tyr283Cys
fibroblast growth factor receptor 1 isoform X3 XP_011542747.1:p.Tyr407= XP_011542747.1:p.Tyr407Cys
fibroblast growth factor receptor 1 isoform X1 XP_011542745.1:p.Tyr407= XP_011542745.1:p.Tyr407Cys
fibroblast growth factor receptor 1 isoform X22 XP_016868719.1:p.Tyr52= XP_016868719.1:p.Tyr52Cys
fibroblast growth factor receptor 1 isoform X12 XP_016868713.1:p.Tyr372= XP_016868713.1:p.Tyr372Cys
fibroblast growth factor receptor 1 isoform X22 XP_016868717.1:p.Tyr283= XP_016868717.1:p.Tyr283Cys
fibroblast growth factor receptor 1 isoform X7 XP_016868709.1:p.Tyr405= XP_016868709.1:p.Tyr405Cys
fibroblast growth factor receptor 1 isoform X12 XP_016868714.1:p.Tyr372= XP_016868714.1:p.Tyr372Cys
fibroblast growth factor receptor 1 isoform X16 XP_016868715.1:p.Tyr318= XP_016868715.1:p.Tyr318Cys
fibroblast growth factor receptor 1 isoform X17 XP_016868716.1:p.Tyr316= XP_016868716.1:p.Tyr316Cys
fibroblast growth factor receptor 1 isoform X10 XP_016868711.1:p.Tyr374= XP_016868711.1:p.Tyr374Cys
fibroblast growth factor receptor 1 isoform X8 XP_016868710.1:p.Tyr374= XP_016868710.1:p.Tyr374Cys
fibroblast growth factor receptor 1 isoform X21 XP_016868718.1:p.Tyr52= XP_016868718.1:p.Tyr52Cys
fibroblast growth factor receptor 1 isoform X8 XP_006716367.1:p.Tyr374= XP_006716367.1:p.Tyr374Cys
fibroblast growth factor receptor 1 isoform X9 XP_006716370.1:p.Tyr372= XP_006716370.1:p.Tyr372Cys
fibroblast growth factor receptor 1 isoform X11 XP_016868712.1:p.Tyr372= XP_016868712.1:p.Tyr372Cys
fibroblast growth factor receptor 1 isoform X4 XP_016868708.1:p.Tyr405= XP_016868708.1:p.Tyr405Cys
fibroblast growth factor receptor 1 isoform X2 XP_011542746.1:p.Tyr405= XP_011542746.1:p.Tyr405Cys
fibroblast growth factor receptor 1 isoform X19 XP_006716377.1:p.Tyr283= XP_006716377.1:p.Tyr283Cys
fibroblast growth factor receptor 1 isoform X18 XP_006716375.1:p.Tyr285= XP_006716375.1:p.Tyr285Cys
fibroblast growth factor receptor 1 isoform X18 XP_006716374.1:p.Tyr285= XP_006716374.1:p.Tyr285Cys
fibroblast growth factor receptor 1 isoform X13 XP_011542750.1:p.Tyr318= XP_011542750.1:p.Tyr318Cys
fibroblast growth factor receptor 1 isoform X14 XP_011542751.1:p.Tyr316= XP_011542751.1:p.Tyr316Cys
fibroblast growth factor receptor 1 isoform X20 XP_011542753.1:p.Tyr277= XP_011542753.1:p.Tyr277Cys
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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#.

1 ClinVar, 1 SubSNP submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss263197873 Nov 04, 2010 (133)
2 ClinVar RCV000017679.28 Jul 20, 2018 (151)
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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
ss263197873 NC_000008.11:38419695:T= NC_000008.11:38419695:T= (self)
RCV000017679.28, ss263197873 NC_000008.11:38419695:T>C NC_000008.11:38419695:T>C (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.

1 citation for rs121909631
PMID Title Author Year Journal
15625620 Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. White KE et al. 2005 American journal of human genetics

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: 0.1.4.post833+d3ba21e