chr3:8787374:G>A Detail (hg19) (CAV3, OXTR)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

CAV3

Type	Transcript	Protein
RefSeq	NM_001234.4:c.277G>A	NP_001225.1:p.Ala93Thr
	NM_033337.2:c.277G>A	NP_203123.1:p.Ala93Thr
Ensemble	ENST00000343849.3:c.277G>A	ENST00000343849.3:p.Ala93Thr
	ENST00000397368.2:c.277G>A	ENST00000397368.2:p.Ala93Thr

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	Conflicting classifications of pathogenicity
Review star
Show details

Links

CAV3

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	COSM2828095	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-02-01	no assertion criteria provided	Rippling muscle disease 2, autosomal recessive	germline	Detail
Pathogenic Likely pathogenic	2023-03-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-12-31	criteria provided, single submitter	long QT syndrome	germline	Detail
Uncertain significance	2022-07-27	criteria provided, single submitter		germline	Detail
Pathogenic Likely pathogenic	2022-05-31	criteria provided, multiple submitters, no conflicts	rippling muscle disease 2	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

Descrption	Source	Links
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) AND Rippling muscle disease 2, autosomal recessive	ClinVar	Detail
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) AND not provided	ClinVar	Detail
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) AND Long QT syndrome	ClinVar	Detail
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) AND Cardiovascular phenotype	ClinVar	Detail
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) AND Rippling muscle disease 2	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: hg19
Position: chr3:8,787,374-8,787,374
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8642
East Asian Allele Counts (ExAC): 4
East Asian Heterozygous Counts (ExAC): 4
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 4.628558204119417E-4
Chromosome Counts in All Race (ExAC): 120968
Allele Counts in All Race (ExAC): 17
Heterozygous Counts in All Race (ExAC): 17
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.4053303352952847E-4

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