chr3:8787236:G>A Detail (hg19) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,236-8,787,236
hg38 chr3:8,745,550-8,745,550 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.139G>A NP_001225.1:p.Glu47Lys
NM_033337.2:c.139G>A NP_203123.1:p.Glu47Lys
Ensemble ENST00000343849.3:c.139G>A ENST00000343849.3:p.Glu47Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-10-25 no assertion criteria provided rippling muscle disease 2 germline Detail
Uncertain significance 2019-08-12 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.139G>A (p.Glu47Lys) AND Rippling muscle disease 2 ClinVar Detail
NM_033337.3(CAV3):c.139G>A (p.Glu47Lys) 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
rs116840793 dbSNP
Genome
hg19
Position
chr3:8,787,236-8,787,236
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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