Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs62636492

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:219421364 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000011 (3/264690, TOPMED)
T=0.000024 (6/251398, GnomAD_exome)
T=0.000017 (2/121160, ExAC) (+ 5 more)
T=0.00004 (1/28256, 14KJPN)
G=0.00000 (0/20918, ALFA)
T=0.00000 (0/20918, ALFA)
T=0.00012 (2/16760, 8.3KJPN)
T=0.00008 (1/13006, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DES : Missense Variant
Publications
5 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 20918 C=1.00000 G=0.00000, T=0.00000
European Sub 15834 C=1.00000 G=0.00000, T=0.00000
African Sub 3324 C=1.0000 G=0.0000, T=0.0000
African Others Sub 114 C=1.000 G=0.000, T=0.000
African American Sub 3210 C=1.0000 G=0.0000, T=0.0000
Asian Sub 112 C=1.000 G=0.000, T=0.000
East Asian Sub 86 C=1.00 G=0.00, T=0.00
Other Asian Sub 26 C=1.00 G=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000
South Asian Sub 98 C=1.00 G=0.00, T=0.00
Other Sub 794 C=1.000 G=0.000, T=0.000


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
TopMed Global Study-wide 264690 C=0.999989 T=0.000011
gnomAD - Exomes Global Study-wide 251398 C=0.999976 T=0.000024
gnomAD - Exomes European Sub 135338 C=0.999978 T=0.000022
gnomAD - Exomes Asian Sub 49010 C=0.99998 T=0.00002
gnomAD - Exomes American Sub 34590 C=0.99997 T=0.00003
gnomAD - Exomes African Sub 16246 C=0.99994 T=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10076 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6138 C=1.0000 T=0.0000
ExAC Global Study-wide 121160 C=0.999983 T=0.000017
ExAC Europe Sub 73176 C=0.99999 T=0.00001
ExAC Asian Sub 25158 C=1.00000 T=0.00000
ExAC American Sub 11566 C=1.00000 T=0.00000
ExAC African Sub 10352 C=0.99990 T=0.00010
ExAC Other Sub 908 C=1.000 T=0.000
14KJPN JAPANESE Study-wide 28256 C=0.99996 T=0.00004
Allele Frequency Aggregator Total Global 20918 C=1.00000 G=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 15834 C=1.00000 G=0.00000, T=0.00000
Allele Frequency Aggregator African Sub 3324 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 794 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16760 C=0.99988 T=0.00012
GO Exome Sequencing Project Global Study-wide 13006 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4406 C=1.0000 T=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 2 NC_000002.12:g.219421364C>G
GRCh38.p14 chr 2 NC_000002.12:g.219421364C>T
GRCh37.p13 chr 2 NC_000002.11:g.220286086C>G
GRCh37.p13 chr 2 NC_000002.11:g.220286086C>T
DES RefSeqGene (LRG_380) NG_008043.1:g.7988C>G
DES RefSeqGene (LRG_380) NG_008043.1:g.7988C>T
Gene: DES, desmin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DES transcript variant 3 NM_001382709.1:c.736-120C…

NM_001382709.1:c.736-120C>G

N/A Intron Variant
DES transcript variant 4 NM_001382710.1:c.1024-45C…

NM_001382710.1:c.1024-45C>G

N/A Intron Variant
DES transcript variant 1 NM_001927.4:c.1048C>G R [CGG] > G [GGG] Coding Sequence Variant
desmin isoform 1 NP_001918.3:p.Arg350Gly R (Arg) > G (Gly) Missense Variant
DES transcript variant 1 NM_001927.4:c.1048C>T R [CGG] > W [TGG] Coding Sequence Variant
desmin isoform 1 NP_001918.3:p.Arg350Trp R (Arg) > W (Trp) Missense Variant
DES transcript variant 6 NM_001382712.1:c.1048C>G R [CGG] > G [GGG] Coding Sequence Variant
desmin isoform 6 NP_001369641.1:p.Arg350Gly R (Arg) > G (Gly) Missense Variant
DES transcript variant 6 NM_001382712.1:c.1048C>T R [CGG] > W [TGG] Coding Sequence Variant
desmin isoform 6 NP_001369641.1:p.Arg350Trp R (Arg) > W (Trp) Missense Variant
DES transcript variant 5 NM_001382711.1:c.1027C>G R [CGG] > G [GGG] Coding Sequence Variant
desmin isoform 5 NP_001369640.1:p.Arg343Gly R (Arg) > G (Gly) Missense Variant
DES transcript variant 5 NM_001382711.1:c.1027C>T R [CGG] > W [TGG] Coding Sequence Variant
desmin isoform 5 NP_001369640.1:p.Arg343Trp R (Arg) > W (Trp) Missense Variant
DES transcript variant 2 NM_001382708.1:c.1045C>G R [CGG] > G [GGG] Coding Sequence Variant
desmin isoform 2 NP_001369637.1:p.Arg349Gly R (Arg) > G (Gly) Missense Variant
DES transcript variant 2 NM_001382708.1:c.1045C>T R [CGG] > W [TGG] Coding Sequence Variant
desmin isoform 2 NP_001369637.1:p.Arg349Trp R (Arg) > W (Trp) Missense Variant
DES transcript variant 7 NM_001382713.1:c.778C>G R [CGG] > G [GGG] Coding Sequence Variant
desmin isoform 7 NP_001369642.1:p.Arg260Gly R (Arg) > G (Gly) Missense Variant
DES transcript variant 7 NM_001382713.1:c.778C>T R [CGG] > W [TGG] Coding Sequence Variant
desmin isoform 7 NP_001369642.1:p.Arg260Trp R (Arg) > W (Trp) 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: T (allele ID: 53411 )
ClinVar Accession Disease Names Clinical Significance
RCV000037224.4 not specified Uncertain-Significance
RCV000056766.2 not provided Uncertain-Significance
RCV000157164.1 Primary dilated cardiomyopathy Likely-Pathogenic
RCV001039932.3 Desmin-related myofibrillar myopathy Pathogenic
RCV001250885.2 Dilated cardiomyopathy 1I 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 C= G T
GRCh38.p14 chr 2 NC_000002.12:g.219421364= NC_000002.12:g.219421364C>G NC_000002.12:g.219421364C>T
GRCh37.p13 chr 2 NC_000002.11:g.220286086= NC_000002.11:g.220286086C>G NC_000002.11:g.220286086C>T
DES RefSeqGene (LRG_380) NG_008043.1:g.7988= NG_008043.1:g.7988C>G NG_008043.1:g.7988C>T
DES transcript variant 1 NM_001927.4:c.1048= NM_001927.4:c.1048C>G NM_001927.4:c.1048C>T
DES transcript NM_001927.3:c.1048= NM_001927.3:c.1048C>G NM_001927.3:c.1048C>T
DES transcript variant 2 NM_001382708.1:c.1045= NM_001382708.1:c.1045C>G NM_001382708.1:c.1045C>T
DES transcript variant 5 NM_001382711.1:c.1027= NM_001382711.1:c.1027C>G NM_001382711.1:c.1027C>T
DES transcript variant 7 NM_001382713.1:c.778= NM_001382713.1:c.778C>G NM_001382713.1:c.778C>T
DES transcript variant 6 NM_001382712.1:c.1048= NM_001382712.1:c.1048C>G NM_001382712.1:c.1048C>T
desmin isoform 1 NP_001918.3:p.Arg350= NP_001918.3:p.Arg350Gly NP_001918.3:p.Arg350Trp
desmin isoform 2 NP_001369637.1:p.Arg349= NP_001369637.1:p.Arg349Gly NP_001369637.1:p.Arg349Trp
desmin isoform 5 NP_001369640.1:p.Arg343= NP_001369640.1:p.Arg343Gly NP_001369640.1:p.Arg343Trp
desmin isoform 7 NP_001369642.1:p.Arg260= NP_001369642.1:p.Arg260Gly NP_001369642.1:p.Arg260Trp
desmin isoform 6 NP_001369641.1:p.Arg350= NP_001369641.1:p.Arg350Gly NP_001369641.1:p.Arg350Trp
DES transcript variant 3 NM_001382709.1:c.736-120= NM_001382709.1:c.736-120C>G NM_001382709.1:c.736-120C>T
DES transcript variant 4 NM_001382710.1:c.1024-45= NM_001382710.1:c.1024-45C>G NM_001382710.1:c.1024-45C>T
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#.

18 SubSNP, 9 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HIFD-CURATED-RECORDS ss538292375 Jul 31, 2012 (137)
2 NHLBI-ESP ss712489061 Apr 25, 2013 (138)
3 EVA_EXAC ss1686748729 Apr 01, 2015 (144)
4 GNOMAD ss2733352994 Nov 08, 2017 (151)
5 GNOMAD ss2746886087 Nov 08, 2017 (151)
6 GNOMAD ss2786548237 Nov 08, 2017 (151)
7 AFFY ss2985200725 Nov 08, 2017 (151)
8 AFFY ss2985821905 Nov 08, 2017 (151)
9 ILLUMINA ss3022071731 Nov 08, 2017 (151)
10 ILLUMINA ss3652522959 Oct 11, 2018 (152)
11 ILLUMINA ss3653968499 Oct 11, 2018 (152)
12 ILLUMINA ss3725874584 Jul 13, 2019 (153)
13 EVA ss3823858295 Apr 25, 2020 (154)
14 TOPMED ss4545318347 Apr 26, 2021 (155)
15 TOMMO_GENOMICS ss5156583539 Apr 26, 2021 (155)
16 TOMMO_GENOMICS ss5687493982 Oct 13, 2022 (156)
17 EVA ss5847903858 Oct 13, 2022 (156)
18 EVA ss5979600512 Oct 13, 2022 (156)
19 ExAC NC_000002.11 - 220286086 Oct 11, 2018 (152)
20 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 91488166 (NC_000002.12:219421363:C:G 1/140170)
Row 91488167 (NC_000002.12:219421363:C:T 1/140170)

- Apr 26, 2021 (155)
21 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 91488166 (NC_000002.12:219421363:C:G 1/140170)
Row 91488167 (NC_000002.12:219421363:C:T 1/140170)

- Apr 26, 2021 (155)
22 gnomAD - Exomes NC_000002.11 - 220286086 Jul 13, 2019 (153)
23 GO Exome Sequencing Project NC_000002.11 - 220286086 Oct 11, 2018 (152)
24 8.3KJPN NC_000002.11 - 220286086 Apr 26, 2021 (155)
25 14KJPN NC_000002.12 - 219421364 Oct 13, 2022 (156)
26 TopMed NC_000002.12 - 219421364 Apr 26, 2021 (155)
27 ALFA NC_000002.12 - 219421364 Apr 26, 2021 (155)
28 ClinVar RCV000037224.4 Oct 13, 2022 (156)
29 ClinVar RCV000056766.2 Oct 13, 2022 (156)
30 ClinVar RCV000157164.1 Oct 11, 2018 (152)
31 ClinVar RCV001039932.3 Oct 13, 2022 (156)
32 ClinVar RCV001250885.2 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
ss2746886087, ss2786548237 NC_000002.11:220286085:C:G NC_000002.12:219421363:C:G (self)
1310726073 NC_000002.12:219421363:C:G NC_000002.12:219421363:C:G (self)
6654254, 2420524, 316697, 14552846, ss712489061, ss1686748729, ss2733352994, ss2985200725, ss2985821905, ss3022071731, ss3652522959, ss3653968499, ss3823858295, ss5156583539, ss5847903858, ss5979600512 NC_000002.11:220286085:C:T NC_000002.12:219421363:C:T (self)
RCV000037224.4, RCV000056766.2, RCV000157164.1, RCV001039932.3, RCV001250885.2, 21331086, 349141226, 1310726073, ss538292375, ss3725874584, ss4545318347, ss5687493982 NC_000002.12:219421363:C:T NC_000002.12:219421363:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

5 citations for rs62636492
PMID Title Author Year Journal
15800015 Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Bär H et al. 2005 Human molecular genetics
17325244 Prevalence of desmin mutations in dilated cardiomyopathy. Taylor MR et al. 2007 Circulation
17439987 Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Walter MC et al. 2007 Brain
20448486 Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. Levin J et al. 2010 Journal of neuropathology and experimental neurology
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
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