chr3:8745688:G>T Detail (hg38) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,374-8,787,374 View the variant detail on this assembly version.
hg38 chr3:8,745,688-8,745,688

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.277G>T NP_001225.1:p.Ala93Ser
NM_033337.2:c.277G>T NP_203123.1:p.Ala93Ser
Ensemble ENST00000343849.3:c.277G>T ENST00000343849.3:p.Ala93Ser
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 Uncertain significance
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 tgv316321675 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-10-31 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2024-01-05 criteria provided, single submitter germline Detail
Uncertain significance 2018-06-28 criteria provided, single submitter long QT syndrome germline Detail
Uncertain significance 2023-02-15 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.246 Rippling muscle disease Homozygous mutations in caveolin-3 cause a severe form of rippling muscle diseas... UNIPROT 12666119 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser) AND not provided ClinVar Detail
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser) AND Cardiovascular phenotype ClinVar Detail
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser) AND Long QT syndrome ClinVar Detail
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser) AND not specified ClinVar Detail
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 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
rs28936686 dbSNP
Genome
hg38
Position
chr3:8,745,688-8,745,688
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8642
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)
120968
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.1333245155743666E-5
Genome browser