chr3:38581137:G>A Detail (hg38) (SCN5A, LOC110121269)

Information

Genome

Assembly Position
hg19 chr3:38,622,628-38,622,628 View the variant detail on this assembly version.
hg38 chr3:38,581,137-38,581,137

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.3022C>T NP_000326.2:p.Pro1008Ser
NM_198056.2:c.3022C>T NP_932173.1:p.Pro1008Ser
NM_001099404.1:c.3022C>T NP_001092874.1:p.Pro1008Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 COSM3593362 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Conduction system disorder germline Detail
Uncertain significance 2022-05-20 criteria provided, single submitter Brugada syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.3022C>T (p.Pro1008Ser) AND Conduction system disorder ClinVar Detail
NM_000335.5(SCN5A):c.3022C>T (p.Pro1008Ser) AND Brugada syndrome 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
rs199473184 dbSNP
Genome
hg38
Position
chr3:38,581,137-38,581,137
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser