chr3:38551505:G>A Detail (hg38) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,592,996-38,592,996 View the variant detail on this assembly version.
hg38 chr3:38,551,505-38,551,505

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.4867C>T NP_000326.2:p.Arg1623Ter
NM_198056.2:c.4867C>T NP_932173.1:p.Arg1623Ter
NM_001099404.1:c.4867C>T NP_001092874.1:p.Arg1623Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 tgv191561030 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic brugada syndrome germline MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
Pathogenic sick sinus syndrome germline MGS000001
(TMGS000174)
Kenjiro Kosaki Keio University
Pathogenic brugada syndrome germline MGS000001
(TMGS000174)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-10-01 no assertion criteria provided Sick sinus syndrome 1 germline Detail
Pathogenic 2024-01-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic criteria provided, single submitter Familial isolated arrhythmogenic right ventricular dysplasia germline Detail
Pathogenic 2014-10-31 no assertion criteria provided long QT syndrome 3 paternal Detail
Pathogenic 2022-06-15 criteria provided, single submitter germline Detail
Pathogenic 2023-09-14 criteria provided, single submitter Cardiac arrhythmia germline Detail
Pathogenic 2021-10-17 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Pathogenic 2021-10-17 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Pathogenic 2021-10-17 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Pathogenic 2021-10-17 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Pathogenic 2021-10-17 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Pathogenic 2021-10-17 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Pathogenic 2021-10-17 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Pathogenic 2021-10-17 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Pathogenic 2024-01-08 criteria provided, multiple submitters, no conflicts Brugada syndrome germline Detail
Pathogenic 2022-12-15 criteria provided, single submitter SCN5A-related disorder unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Sick sinus syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Familial isolated arrhythmogenic right ventricular d... ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Long QT syndrome 3 ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Cardiovascular phenotype ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND Brugada syndrome ClinVar Detail
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND SCN5A-related disorder 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
rs137854613 dbSNP
Genome
hg38
Position
chr3:38,551,505-38,551,505
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser