chr11:3967628:C>A 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	chr11:3,988,858-3,988,858 View the variant detail on this assembly version.
hg38	chr11:3,967,628-3,967,628

HGVS

STIM1

Type	Transcript	Protein
RefSeq	NM_003156.3:c.216C>A	NP_003147.2:p.His72Gln
	NM_001277962.1:c.216C>A	NP_001264891.1:p.His72Gln
	NM_001277961.1:c.216C>A	NP_001264890.1:p.His72Gln
Ensemble	ENST00000300737.8:c.216C>A	ENST00000300737.8:p.His72Gln
	ENST00000525403.6:c.-7C>A
	ENST00000526596.2:c.216C>A	ENST00000526596.2:p.His72Gln
	ENST00000527651.5:c.216C>A	ENST00000527651.5:p.His72Gln
	ENST00000616714.4:c.216C>A	ENST00000616714.4:p.His72Gln
	ENST00000698910.1:c.-219-56245C>A
	ENST00000698911.1:c.-7C>A
	ENST00000698912.1:c.-7C>A
	ENST00000698913.1:c.-7C>A
	ENST00000698914.1:c.216C>A	ENST00000698914.1:p.His72Gln
	ENST00000698915.1:c.216C>A	ENST00000698915.1:p.His72Gln
	ENST00000698916.1:c.216C>A	ENST00000698916.1:p.His72Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
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: rs397515436 dbSNP
Genome: hg38
Position: chr11:3,967,628-3,967,628
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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