chr11:3988893:A>G Detail (hg19) (STIM1)

Information

Genome

Assembly Position
hg19 chr11:3,988,893-3,988,893
hg38 chr11:3,967,663-3,967,663 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003156.3:c.251A>G NP_003147.2:p.Asp84Gly
NM_001277961.1:c.251A>G NP_001264890.1:p.Asp84Gly
NM_001277962.1:c.251A>G NP_001264891.1:p.Asp84Gly
Summary

MGeND

Clinical significance
Variant entry
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 605921 OMIM
HGNC 11386 HGNC
Ensembl ENSG00000167323 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 2013-02-07 no assertion criteria provided Myopathy, tubular aggregate, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.241 Tubular Aggregate Myopathy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001382567.1(STIM1):c.251A>G (p.Asp84Gly) AND Myopathy, tubular aggregate, 1 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
rs397514675 dbSNP
Genome
hg19
Position
chr11:3,988,893-3,988,893
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser