chr3:8787234:C>T Detail (hg19) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,234-8,787,234
hg38 chr3:8,745,548-8,745,548 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.137C>T NP_001225.1:p.Ala46Val
NM_033337.2:c.137C>T NP_203123.1:p.Ala46Val
Ensemble ENST00000343849.3:c.137C>T ENST00000343849.3:p.Ala46Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 2005-01-01 no assertion criteria provided rippling muscle disease 2 germline Detail
Likely pathogenic 2016-01-25 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 RIPPLING MUSCLE DISEASE 2 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033337.3(CAV3):c.137C>T (p.Ala46Val) AND Rippling muscle disease 2 ClinVar Detail
NM_033337.3(CAV3):c.137C>T (p.Ala46Val) 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
rs116840773 dbSNP
Genome
hg19
Position
chr3:8,787,234-8,787,234
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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