chr3:38607992:A>G Detail (hg19) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,607,992-38,607,992
hg38 chr3:38,566,501-38,566,501 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.3748T>C NP_000326.2:p.Phe1250Leu
NM_198056.2:c.3748T>C NP_932173.1:p.Phe1250Leu
NM_001099404.1:c.3748T>C NP_001092874.1:p.Phe1250Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Acquired long QT syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 long QT syndrome 3 Allelic variants in long-QT disease genes in patients with drug-associated torsa... UNIPROT 11997281 Detail
0.121 Acquired long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.3745T>C (p.Phe1249Leu) AND Acquired long QT syndrome ClinVar Detail
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. DisGeNET 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
rs45589741 dbSNP
Genome
hg19
Position
chr3:38,607,992-38,607,992
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser