chr3:8787330:C>A Detail (hg19) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,330-8,787,330
hg38 chr3:8,745,644-8,745,644 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.233C>A NP_001225.1:p.Thr78Lys
NM_033337.2:c.233C>A NP_203123.1:p.Thr78Lys
Ensemble ENST00000397368.2:c.233C>A ENST00000397368.2:p.Thr78Lys
Summary

MGeND

Clinical significance
Variant entry
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 not provided
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 COSM3945742 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 not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.124 sudden infant death syndrome In silico prediction tools were applied to variants present in ESP and 6 SIDS-as... BeFree 23465283 Detail
0.120 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
0.360 LONG QT SYNDROME 9 (disorder) NA CLINVAR Detail
0.360 LONG QT SYNDROME 9 (disorder) Mutant caveolin-3 induces persistent late sodium current and is associated with ... UNIPROT 17060380 Detail
0.122 long QT syndrome NA CLINVAR Detail
0.120 Long QT syndrome 2/9, digenic NA CLINVAR Detail
0.246 Rippling muscle disease We report the first case of a heterozygous T78M mutation in the caveolin-3 gene ... BeFree 22245016 Detail
0.126 rippling muscle disease 1 We report the first case of a heterozygous T78M mutation in the caveolin-3 gene ... BeFree 22245016 Detail
0.124 sudden infant death syndrome Mutant caveolin-3 induces persistent late sodium current and is associated with ... UNIPROT 17060380 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033337.3(CAV3):c.233C>A (p.Thr78Lys) AND not provided ClinVar Detail
In silico prediction tools were applied to variants present in ESP and 6 SIDS-associated variants (C... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi... DisGeNET Detail
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated wi... DisGeNET Detail
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 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
rs72546668 dbSNP
Genome
hg19
Position
chr3:8,787,330-8,787,330
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8630
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)
120800
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.278145695364238E-6
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