chr11:4023945:A>T Detail (hg38) (STIM1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:4,045,175-4,045,175 View the variant detail on this assembly version.
hg38	chr11:4,023,945-4,023,945

HGVS

STIM1

Type	Transcript	Protein
RefSeq	NM_003156.3:c.343A>T	NP_003147.2:p.Ile115Phe
	NM_001277962.1:c.343A>T	NP_001264891.1:p.Ile115Phe
	NM_001277961.1:c.343A>T	NP_001264890.1:p.Ile115Phe
Ensemble	ENST00000300737.8:c.343A>T	ENST00000300737.8:p.Ile115Phe
	ENST00000525403.6:c.121A>T	ENST00000525403.6:p.Ile41Phe
	ENST00000526596.2:c.343A>T	ENST00000526596.2:p.Ile115Phe
	ENST00000527651.5:c.343A>T	ENST00000527651.5:p.Ile115Phe
	ENST00000616714.4:c.343A>T	ENST00000616714.4:p.Ile115Phe
	ENST00000698910.1:c.-147A>T
	ENST00000698911.1:c.121A>T	ENST00000698911.1:p.Ile41Phe
	ENST00000698912.1:c.121A>T	ENST00000698912.1:p.Ile41Phe
	ENST00000698913.1:c.121A>T	ENST00000698913.1:p.Ile41Phe
	ENST00000698914.1:c.343A>T	ENST00000698914.1:p.Ile115Phe
	ENST00000698915.1:c.343A>T	ENST00000698915.1:p.Ile115Phe
	ENST00000698916.1:c.343A>T	ENST00000698916.1:p.Ile115Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

STIM1

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		no assertion criteria provided	not provided	unknown	Detail
Pathogenic	2015-03-01	no assertion criteria provided	Myopathy, tubular aggregate, 1	germline	Detail
Pathogenic	2015-03-01	no assertion criteria provided	Stormorken syndrome	germline	Detail
Pathogenic	2020-04-06	criteria provided, single submitter	Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome,Myopathy with tubular aggregates	germline	Detail
Pathogenic	2020-04-06	criteria provided, single submitter	Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome,Myopathy with tubular aggregates	germline	Detail
Pathogenic	2020-04-06	criteria provided, single submitter	Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome,Myopathy with tubular aggregates	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	Tubular Aggregate Myopathy	NA	CLINVAR		Detail
0.361	Stormorken syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) AND not provided	ClinVar	Detail
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) AND Myopathy, tubular aggregate, 1	ClinVar	Detail
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) AND Stormorken syndrome	ClinVar	Detail
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) AND multiple conditions	ClinVar	Detail
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) AND multiple conditions	ClinVar	Detail
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	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: rs527236030 dbSNP
Genome: hg38
Position: chr11:4,023,945-4,023,945
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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