chr11:3988881:A>C Detail (hg19) (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	chr11:3,988,881-3,988,881
hg38	chr11:3,967,651-3,967,651 View the variant detail on this assembly version.

HGVS

STIM1

Type	Transcript	Protein
RefSeq	NM_003156.3:c.239A>C	NP_003147.2:p.Asn80Thr
	NM_001277962.1:c.239A>C	NP_001264891.1:p.Asn80Thr
	NM_001277961.1:c.239A>C	NP_001264890.1:p.Asn80Thr
Ensemble	ENST00000300737.8:c.239A>C	ENST00000300737.8:p.Asn80Thr
	ENST00000526596.2:c.239A>C	ENST00000526596.2:p.Asn80Thr
	ENST00000698914.1:c.239A>C	ENST00000698914.1:p.Asn80Thr
	ENST00000698912.1:c.17A>C	ENST00000698912.1:p.Asn6Thr
	ENST00000698911.1:c.17A>C	ENST00000698911.1:p.Asn6Thr
	ENST00000525403.6:c.17A>C	ENST00000525403.6:p.Asn6Thr
	ENST00000527651.5:c.239A>C	ENST00000527651.5:p.Asn80Thr
	ENST00000698915.1:c.239A>C	ENST00000698915.1:p.Asn80Thr
	ENST00000616714.4:c.239A>C	ENST00000616714.4:p.Asn80Thr
	ENST00000698913.1:c.17A>C	ENST00000698913.1:p.Asn6Thr
	ENST00000698910.1:c.-219-56222A>C
	ENST00000698916.1:c.239A>C	ENST00000698916.1:p.Asn80Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

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	2014-12-01	no assertion criteria provided	Myopathy, tubular aggregate, 1	germline	Detail
Likely pathogenic	2019-01-03	criteria provided, single submitter	Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome,Myopathy with tubular aggregates	germline	Detail
Likely pathogenic	2019-01-03	criteria provided, single submitter	Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome,Myopathy with tubular aggregates	germline	Detail
Likely pathogenic	2019-01-03	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

Annotation

Annotations

Descrption	Source	Links
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) AND Myopathy, tubular aggregate, 1	ClinVar	Detail
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) AND multiple conditions	ClinVar	Detail
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) AND multiple conditions	ClinVar	Detail
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) AND multiple conditions	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: rs748277951 dbSNP
Genome: hg19
Position: chr11:3,988,881-3,988,881
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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