chr3:8745834:C>G Detail (hg38) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,520-8,787,520 View the variant detail on this assembly version.
hg38 chr3:8,745,834-8,745,834

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.423C>G NP_001225.1:p.Ser141Arg
NM_033337.2:c.423C>G NP_203123.1:p.Ser141Arg
Ensemble ENST00000343849.3:c.423C>G ENST00000343849.3:p.Ser141Arg
Summary

MGeND

Clinical significance
Variant entry
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 601253 OMIM
HGNC 1529 HGNC
Ensembl ENSG00000182533 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
Pathogenic 2006-11-14 no assertion criteria provided long QT syndrome 9 germline Detail
not provided 2012-04-15 no assertion provided not provided de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 LONG QT SYNDROME 9 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033337.3(CAV3):c.423C>G (p.Ser141Arg) AND Long QT syndrome 9 ClinVar Detail
NM_033337.3(CAV3):c.423C>G (p.Ser141Arg) AND not provided 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
rs104893713 dbSNP
Genome
hg38
Position
chr3:8,745,834-8,745,834
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser