chr11:4023928:A>G Detail (hg38) (STIM1)

Information

Genome

Assembly Position
hg19 chr11:4,045,158-4,045,158 View the variant detail on this assembly version.
hg38 chr11:4,023,928-4,023,928

HGVS

Type Transcript Protein
RefSeq NM_003156.3:c.326A>G NP_003147.2:p.His109Arg
NM_001277962.1:c.326A>G NP_001264891.1:p.His109Arg
NM_001277961.1:c.326A>G NP_001264890.1:p.His109Arg
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 Likely pathogenic 2014-05-01 no assertion criteria provided Myopathy, tubular aggregate, 1 germline Detail
Pathogenic 2023-11-13 criteria provided, single submitter Myopathy with tubular aggregates,Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome germline Detail
Pathogenic 2023-11-13 criteria provided, single submitter Myopathy with tubular aggregates,Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome germline Detail
Pathogenic 2023-11-13 criteria provided, single submitter Myopathy with tubular aggregates,Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome germline Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided 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.326A>G (p.His109Arg) AND Myopathy, tubular aggregate, 1 ClinVar Detail
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) AND multiple conditions ClinVar Detail
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) AND multiple conditions ClinVar Detail
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) AND multiple conditions ClinVar Detail
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) 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
rs397514677 dbSNP
Genome
hg38
Position
chr11:4,023,928-4,023,928
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser