chr3:38597155:G>A Detail (hg19) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,597,155-38,597,155
hg38 chr3:38,555,664-38,555,664 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.4534C>T NP_000326.2:p.Arg1512Trp
NM_198056.2:c.4534C>T NP_932173.1:p.Arg1512Trp
NM_001099404.1:c.4534C>T NP_001092874.1:p.Arg1512Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 600163 OMIM
HGNC 10593 HGNC
Ensembl ENSG00000183873 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1317120 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic brugada syndrome unknown MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2024-05-17 criteria provided, multiple submitters, no conflicts Brugada syndrome 1 germline unknown Detail
Conflicting interpretations of pathogenicity 2023-12-04 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2014-07-18 no assertion criteria provided Primary familial hypertrophic cardiomyopathy germline Detail
Uncertain significance 2023-12-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2023-06-16 criteria provided, single submitter Cardiac arrhythmia germline Detail
Uncertain significance 2022-07-11 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) AND Brugada syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) AND not specified ClinVar Detail
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs137854602 dbSNP
Genome
hg19
Position
chr3:38,597,155-38,597,155
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121184
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.426722999735939E-5
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