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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.

rs1345994179

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:88084800 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/245188, GnomAD_exome)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CEP290 : Stop Gained
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 245188 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 132164 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 47698 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 33994 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 15350 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10006 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 5976 G=1.0000 A=0.0000
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 12 NC_000012.12:g.88084800G>A
GRCh38.p14 chr 12 NC_000012.12:g.88084800G>T
GRCh37.p13 chr 12 NC_000012.11:g.88478577G>A
GRCh37.p13 chr 12 NC_000012.11:g.88478577G>T
CEP290 RefSeqGene (LRG_694) NG_008417.2:g.62417C>T
CEP290 RefSeqGene (LRG_694) NG_008417.2:g.62417C>A
Gene: CEP290, centrosomal protein 290 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CEP290 transcript NM_025114.4:c.4490C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa NP_079390.3:p.Ser1497Leu S (Ser) > L (Leu) Missense Variant
CEP290 transcript NM_025114.4:c.4490C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa NP_079390.3:p.Ser1497Ter S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X1 XM_011538756.4:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X1 XP_011537058.1:p.Ser1784L…

XP_011537058.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X1 XM_011538756.4:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X1 XP_011537058.1:p.Ser1784T…

XP_011537058.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X2 XM_011538757.4:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X1 XP_011537059.1:p.Ser1784L…

XP_011537059.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X2 XM_011538757.4:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X1 XP_011537059.1:p.Ser1784T…

XP_011537059.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X3 XM_011538758.4:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X2 XP_011537060.1:p.Ser1784L…

XP_011537060.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X3 XM_011538758.4:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X2 XP_011537060.1:p.Ser1784T…

XP_011537060.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X4 XM_011538759.3:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X3 XP_011537061.1:p.Ser1784L…

XP_011537061.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X4 XM_011538759.3:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X3 XP_011537061.1:p.Ser1784T…

XP_011537061.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X5 XM_011538760.3:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X4 XP_011537062.1:p.Ser1784L…

XP_011537062.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X5 XM_011538760.3:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X4 XP_011537062.1:p.Ser1784T…

XP_011537062.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X6 XM_017019980.3:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X5 XP_016875469.1:p.Ser1784L…

XP_016875469.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X6 XM_017019980.3:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X5 XP_016875469.1:p.Ser1784T…

XP_016875469.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X7 XM_011538761.3:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X6 XP_011537063.1:p.Ser1784L…

XP_011537063.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X7 XM_011538761.3:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X6 XP_011537063.1:p.Ser1784T…

XP_011537063.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X8 XM_017019981.3:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X7 XP_016875470.1:p.Ser1784L…

XP_016875470.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X8 XM_017019981.3:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X7 XP_016875470.1:p.Ser1784T…

XP_016875470.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X9 XM_017019982.2:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X8 XP_016875471.1:p.Ser1784L…

XP_016875471.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X9 XM_017019982.2:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X8 XP_016875471.1:p.Ser1784T…

XP_016875471.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X10 XM_047429558.1:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X9 XP_047285514.1:p.Ser1784L…

XP_047285514.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X10 XM_047429558.1:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X9 XP_047285514.1:p.Ser1784T…

XP_047285514.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X11 XM_047429559.1:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X10 XP_047285515.1:p.Ser1784L…

XP_047285515.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X11 XM_047429559.1:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X10 XP_047285515.1:p.Ser1784T…

XP_047285515.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X12 XM_011538762.4:c.4583C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X11 XP_011537064.1:p.Ser1528L…

XP_011537064.1:p.Ser1528Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X12 XM_011538762.4:c.4583C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X11 XP_011537064.1:p.Ser1528T…

XP_011537064.1:p.Ser1528Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X13 XM_047429560.1:c.4583C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X11 XP_047285516.1:p.Ser1528L…

XP_047285516.1:p.Ser1528Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X13 XM_047429560.1:c.4583C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X11 XP_047285516.1:p.Ser1528T…

XP_047285516.1:p.Ser1528Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X14 XM_047429561.1:c.4583C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X12 XP_047285517.1:p.Ser1528L…

XP_047285517.1:p.Ser1528Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X14 XM_047429561.1:c.4583C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X12 XP_047285517.1:p.Ser1528T…

XP_047285517.1:p.Ser1528Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X15 XM_011538763.4:c.4490C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X13 XP_011537065.1:p.Ser1497L…

XP_011537065.1:p.Ser1497Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X15 XM_011538763.4:c.4490C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X13 XP_011537065.1:p.Ser1497T…

XP_011537065.1:p.Ser1497Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X16 XM_047429562.1:c.4490C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X13 XP_047285518.1:p.Ser1497L…

XP_047285518.1:p.Ser1497Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X16 XM_047429562.1:c.4490C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X13 XP_047285518.1:p.Ser1497T…

XP_047285518.1:p.Ser1497Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X17 XM_017019983.3:c.4469C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X14 XP_016875472.1:p.Ser1490L…

XP_016875472.1:p.Ser1490Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X17 XM_017019983.3:c.4469C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X14 XP_016875472.1:p.Ser1490T…

XP_016875472.1:p.Ser1490Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X18 XM_047429563.1:c.4490C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X15 XP_047285519.1:p.Ser1497L…

XP_047285519.1:p.Ser1497Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X18 XM_047429563.1:c.4490C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X15 XP_047285519.1:p.Ser1497T…

XP_047285519.1:p.Ser1497Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X19 XM_011538764.4:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X16 XP_011537066.1:p.Ser1784L…

XP_011537066.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X19 XM_011538764.4:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X16 XP_011537066.1:p.Ser1784T…

XP_011537066.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X20 XM_011538765.4:c.5351C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X17 XP_011537067.1:p.Ser1784L…

XP_011537067.1:p.Ser1784Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X20 XM_011538765.4:c.5351C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X17 XP_011537067.1:p.Ser1784T…

XP_011537067.1:p.Ser1784Ter

S (Ser) > * (Ter) Stop Gained
CEP290 transcript variant X21 XM_011538766.4:c.3812C>T S [TCA] > L [TTA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X18 XP_011537068.1:p.Ser1271L…

XP_011537068.1:p.Ser1271Leu

S (Ser) > L (Leu) Missense Variant
CEP290 transcript variant X21 XM_011538766.4:c.3812C>A S [TCA] > * [TAA] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X18 XP_011537068.1:p.Ser1271T…

XP_011537068.1:p.Ser1271Ter

S (Ser) > * (Ter) Stop Gained
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: T (allele ID: 856763 )
ClinVar Accession Disease Names Clinical Significance
RCV001074470.1 Retinal dystrophy 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 G= A T
GRCh38.p14 chr 12 NC_000012.12:g.88084800= NC_000012.12:g.88084800G>A NC_000012.12:g.88084800G>T
GRCh37.p13 chr 12 NC_000012.11:g.88478577= NC_000012.11:g.88478577G>A NC_000012.11:g.88478577G>T
CEP290 RefSeqGene (LRG_694) NG_008417.2:g.62417= NG_008417.2:g.62417C>T NG_008417.2:g.62417C>A
CEP290 transcript NM_025114.4:c.4490= NM_025114.4:c.4490C>T NM_025114.4:c.4490C>A
CEP290 transcript NM_025114.3:c.4490= NM_025114.3:c.4490C>T NM_025114.3:c.4490C>A
CEP290 transcript variant X1 XM_011538756.4:c.5351= XM_011538756.4:c.5351C>T XM_011538756.4:c.5351C>A
CEP290 transcript variant X1 XM_011538756.3:c.5351= XM_011538756.3:c.5351C>T XM_011538756.3:c.5351C>A
CEP290 transcript variant X1 XM_011538756.2:c.5351= XM_011538756.2:c.5351C>T XM_011538756.2:c.5351C>A
CEP290 transcript variant X1 XM_011538756.1:c.5351= XM_011538756.1:c.5351C>T XM_011538756.1:c.5351C>A
CEP290 transcript variant X3 XM_011538758.4:c.5351= XM_011538758.4:c.5351C>T XM_011538758.4:c.5351C>A
CEP290 transcript variant X3 XM_011538758.3:c.5351= XM_011538758.3:c.5351C>T XM_011538758.3:c.5351C>A
CEP290 transcript variant X3 XM_011538758.2:c.5351= XM_011538758.2:c.5351C>T XM_011538758.2:c.5351C>A
CEP290 transcript variant X3 XM_011538758.1:c.5351= XM_011538758.1:c.5351C>T XM_011538758.1:c.5351C>A
CEP290 transcript variant X2 XM_011538757.4:c.5351= XM_011538757.4:c.5351C>T XM_011538757.4:c.5351C>A
CEP290 transcript variant X2 XM_011538757.3:c.5351= XM_011538757.3:c.5351C>T XM_011538757.3:c.5351C>A
CEP290 transcript variant X2 XM_011538757.2:c.5351= XM_011538757.2:c.5351C>T XM_011538757.2:c.5351C>A
CEP290 transcript variant X2 XM_011538757.1:c.5351= XM_011538757.1:c.5351C>T XM_011538757.1:c.5351C>A
CEP290 transcript variant X12 XM_011538762.4:c.4583= XM_011538762.4:c.4583C>T XM_011538762.4:c.4583C>A
CEP290 transcript variant X12 XM_011538762.3:c.4583= XM_011538762.3:c.4583C>T XM_011538762.3:c.4583C>A
CEP290 transcript variant X12 XM_011538762.2:c.4583= XM_011538762.2:c.4583C>T XM_011538762.2:c.4583C>A
CEP290 transcript variant X7 XM_011538762.1:c.4583= XM_011538762.1:c.4583C>T XM_011538762.1:c.4583C>A
CEP290 transcript variant X15 XM_011538763.4:c.4490= XM_011538763.4:c.4490C>T XM_011538763.4:c.4490C>A
CEP290 transcript variant X13 XM_011538763.3:c.4490= XM_011538763.3:c.4490C>T XM_011538763.3:c.4490C>A
CEP290 transcript variant X13 XM_011538763.2:c.4490= XM_011538763.2:c.4490C>T XM_011538763.2:c.4490C>A
CEP290 transcript variant X8 XM_011538763.1:c.4490= XM_011538763.1:c.4490C>T XM_011538763.1:c.4490C>A
CEP290 transcript variant X19 XM_011538764.4:c.5351= XM_011538764.4:c.5351C>T XM_011538764.4:c.5351C>A
CEP290 transcript variant X15 XM_011538764.3:c.5351= XM_011538764.3:c.5351C>T XM_011538764.3:c.5351C>A
CEP290 transcript variant X15 XM_011538764.2:c.5351= XM_011538764.2:c.5351C>T XM_011538764.2:c.5351C>A
CEP290 transcript variant X9 XM_011538764.1:c.5351= XM_011538764.1:c.5351C>T XM_011538764.1:c.5351C>A
CEP290 transcript variant X20 XM_011538765.4:c.5351= XM_011538765.4:c.5351C>T XM_011538765.4:c.5351C>A
CEP290 transcript variant X16 XM_011538765.3:c.5351= XM_011538765.3:c.5351C>T XM_011538765.3:c.5351C>A
CEP290 transcript variant X16 XM_011538765.2:c.5351= XM_011538765.2:c.5351C>T XM_011538765.2:c.5351C>A
CEP290 transcript variant X10 XM_011538765.1:c.5351= XM_011538765.1:c.5351C>T XM_011538765.1:c.5351C>A
CEP290 transcript variant X21 XM_011538766.4:c.3812= XM_011538766.4:c.3812C>T XM_011538766.4:c.3812C>A
CEP290 transcript variant X17 XM_011538766.3:c.3812= XM_011538766.3:c.3812C>T XM_011538766.3:c.3812C>A
CEP290 transcript variant X17 XM_011538766.2:c.3812= XM_011538766.2:c.3812C>T XM_011538766.2:c.3812C>A
CEP290 transcript variant X11 XM_011538766.1:c.3812= XM_011538766.1:c.3812C>T XM_011538766.1:c.3812C>A
CEP290 transcript variant X4 XM_011538759.3:c.5351= XM_011538759.3:c.5351C>T XM_011538759.3:c.5351C>A
CEP290 transcript variant X4 XM_011538759.2:c.5351= XM_011538759.2:c.5351C>T XM_011538759.2:c.5351C>A
CEP290 transcript variant X4 XM_011538759.1:c.5351= XM_011538759.1:c.5351C>T XM_011538759.1:c.5351C>A
CEP290 transcript variant X5 XM_011538760.3:c.5351= XM_011538760.3:c.5351C>T XM_011538760.3:c.5351C>A
CEP290 transcript variant X5 XM_011538760.2:c.5351= XM_011538760.2:c.5351C>T XM_011538760.2:c.5351C>A
CEP290 transcript variant X5 XM_011538760.1:c.5351= XM_011538760.1:c.5351C>T XM_011538760.1:c.5351C>A
CEP290 transcript variant X6 XM_017019980.3:c.5351= XM_017019980.3:c.5351C>T XM_017019980.3:c.5351C>A
CEP290 transcript variant X6 XM_017019980.2:c.5351= XM_017019980.2:c.5351C>T XM_017019980.2:c.5351C>A
CEP290 transcript variant X6 XM_017019980.1:c.5351= XM_017019980.1:c.5351C>T XM_017019980.1:c.5351C>A
CEP290 transcript variant X7 XM_011538761.3:c.5351= XM_011538761.3:c.5351C>T XM_011538761.3:c.5351C>A
CEP290 transcript variant X7 XM_011538761.2:c.5351= XM_011538761.2:c.5351C>T XM_011538761.2:c.5351C>A
CEP290 transcript variant X7 XM_011538761.1:c.5351= XM_011538761.1:c.5351C>T XM_011538761.1:c.5351C>A
CEP290 transcript variant X8 XM_017019981.3:c.5351= XM_017019981.3:c.5351C>T XM_017019981.3:c.5351C>A
CEP290 transcript variant X8 XM_017019981.2:c.5351= XM_017019981.2:c.5351C>T XM_017019981.2:c.5351C>A
CEP290 transcript variant X8 XM_017019981.1:c.5351= XM_017019981.1:c.5351C>T XM_017019981.1:c.5351C>A
CEP290 transcript variant X17 XM_017019983.3:c.4469= XM_017019983.3:c.4469C>T XM_017019983.3:c.4469C>A
CEP290 transcript variant X14 XM_017019983.2:c.4469= XM_017019983.2:c.4469C>T XM_017019983.2:c.4469C>A
CEP290 transcript variant X14 XM_017019983.1:c.4469= XM_017019983.1:c.4469C>T XM_017019983.1:c.4469C>A
CEP290 transcript variant X9 XM_017019982.2:c.5351= XM_017019982.2:c.5351C>T XM_017019982.2:c.5351C>A
CEP290 transcript variant X9 XM_017019982.1:c.5351= XM_017019982.1:c.5351C>T XM_017019982.1:c.5351C>A
CEP290 transcript variant X10 XM_047429558.1:c.5351= XM_047429558.1:c.5351C>T XM_047429558.1:c.5351C>A
CEP290 transcript variant X14 XM_047429561.1:c.4583= XM_047429561.1:c.4583C>T XM_047429561.1:c.4583C>A
CEP290 transcript variant X11 XM_047429559.1:c.5351= XM_047429559.1:c.5351C>T XM_047429559.1:c.5351C>A
CEP290 transcript variant X13 XM_047429560.1:c.4583= XM_047429560.1:c.4583C>T XM_047429560.1:c.4583C>A
CEP290 transcript variant X16 XM_047429562.1:c.4490= XM_047429562.1:c.4490C>T XM_047429562.1:c.4490C>A
CEP290 transcript variant X18 XM_047429563.1:c.4490= XM_047429563.1:c.4490C>T XM_047429563.1:c.4490C>A
KIAA0373 transcript NM_014684.1:c.1670= NM_014684.1:c.1670C>T NM_014684.1:c.1670C>A
centrosomal protein of 290 kDa NP_079390.3:p.Ser1497= NP_079390.3:p.Ser1497Leu NP_079390.3:p.Ser1497Ter
centrosomal protein of 290 kDa isoform X1 XP_011537058.1:p.Ser1784= XP_011537058.1:p.Ser1784Leu XP_011537058.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X2 XP_011537060.1:p.Ser1784= XP_011537060.1:p.Ser1784Leu XP_011537060.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X1 XP_011537059.1:p.Ser1784= XP_011537059.1:p.Ser1784Leu XP_011537059.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X11 XP_011537064.1:p.Ser1528= XP_011537064.1:p.Ser1528Leu XP_011537064.1:p.Ser1528Ter
centrosomal protein of 290 kDa isoform X13 XP_011537065.1:p.Ser1497= XP_011537065.1:p.Ser1497Leu XP_011537065.1:p.Ser1497Ter
centrosomal protein of 290 kDa isoform X16 XP_011537066.1:p.Ser1784= XP_011537066.1:p.Ser1784Leu XP_011537066.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X17 XP_011537067.1:p.Ser1784= XP_011537067.1:p.Ser1784Leu XP_011537067.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X18 XP_011537068.1:p.Ser1271= XP_011537068.1:p.Ser1271Leu XP_011537068.1:p.Ser1271Ter
centrosomal protein of 290 kDa isoform X3 XP_011537061.1:p.Ser1784= XP_011537061.1:p.Ser1784Leu XP_011537061.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X4 XP_011537062.1:p.Ser1784= XP_011537062.1:p.Ser1784Leu XP_011537062.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X5 XP_016875469.1:p.Ser1784= XP_016875469.1:p.Ser1784Leu XP_016875469.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X6 XP_011537063.1:p.Ser1784= XP_011537063.1:p.Ser1784Leu XP_011537063.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X7 XP_016875470.1:p.Ser1784= XP_016875470.1:p.Ser1784Leu XP_016875470.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X14 XP_016875472.1:p.Ser1490= XP_016875472.1:p.Ser1490Leu XP_016875472.1:p.Ser1490Ter
centrosomal protein of 290 kDa isoform X8 XP_016875471.1:p.Ser1784= XP_016875471.1:p.Ser1784Leu XP_016875471.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X9 XP_047285514.1:p.Ser1784= XP_047285514.1:p.Ser1784Leu XP_047285514.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X12 XP_047285517.1:p.Ser1528= XP_047285517.1:p.Ser1528Leu XP_047285517.1:p.Ser1528Ter
centrosomal protein of 290 kDa isoform X10 XP_047285515.1:p.Ser1784= XP_047285515.1:p.Ser1784Leu XP_047285515.1:p.Ser1784Ter
centrosomal protein of 290 kDa isoform X11 XP_047285516.1:p.Ser1528= XP_047285516.1:p.Ser1528Leu XP_047285516.1:p.Ser1528Ter
centrosomal protein of 290 kDa isoform X13 XP_047285518.1:p.Ser1497= XP_047285518.1:p.Ser1497Leu XP_047285518.1:p.Ser1497Ter
centrosomal protein of 290 kDa isoform X15 XP_047285519.1:p.Ser1497= XP_047285519.1:p.Ser1497Leu XP_047285519.1:p.Ser1497Ter
Help

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 SubSNP, 1 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740022336 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000012.11 - 88478577 Jul 13, 2019 (153)
3 ClinVar RCV001074470.1 Apr 26, 2021 (155)
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
9257739, ss2740022336 NC_000012.11:88478576:G:A NC_000012.12:88084799:G:A (self)
RCV001074470.1 NC_000012.12:88084799:G:T NC_000012.12:88084799:G:T (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.

No publications for rs1345994179

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