chr11:4023927:C>A Detail (hg38) (STIM1)

Information

Genome

Assembly Position
hg19 chr11:4,045,157-4,045,157 View the variant detail on this assembly version.
hg38 chr11:4,023,927-4,023,927

HGVS

Type Transcript Protein
RefSeq NM_003156.3:c.325C>A NP_003147.2:p.His109Asn
NM_001277962.1:c.325C>A NP_001264891.1:p.His109Asn
NM_001277961.1:c.325C>A NP_001264890.1:p.His109Asn
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 2014-12-01 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.325C>A (p.His109Asn) 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
rs397514676 dbSNP
Genome
hg38
Position
chr11:4,023,927-4,023,927
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser