chr3:8787233:G>A Detail (hg19) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,233-8,787,233
hg38 chr3:8,745,547-8,745,547 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.136G>A NP_001225.1:p.Ala46Thr
NM_033337.2:c.136G>A NP_203123.1:p.Ala46Thr
Ensemble ENST00000343849.3:c.136G>A ENST00000343849.3:p.Ala46Thr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 COSM297359 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic LGMD1C germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-01-01 no assertion criteria provided rippling muscle disease 2 germline Detail
Pathogenic 2005-01-01 no assertion criteria provided germline Detail
Pathogenic 2022-08-31 criteria provided, multiple submitters, no conflicts not provided de novo germline Detail
Pathogenic 2023-10-06 criteria provided, single submitter long QT syndrome germline Detail
Pathogenic 2021-02-19 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 RIPPLING MUSCLE DISEASE 2 (disorder) NA CLINVAR Detail
0.560 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C NA CLINVAR Detail
0.246 Rippling muscle disease Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. BeFree 20229577 Detail
0.360 Creatine phosphokinase serum increased NA CLINVAR Detail
0.126 rippling muscle disease 1 Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. BeFree 20229577 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) AND Rippling muscle disease 2 ClinVar Detail
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) AND Elevated circulating creatine kinase concentration ClinVar Detail
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) AND not provided ClinVar Detail
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) AND Long QT syndrome ClinVar Detail
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. DisGeNET Detail
NA DisGeNET Detail
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. 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
rs116840789 dbSNP
Genome
hg19
Position
chr3:8,787,233-8,787,233
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser