chr11:3988876:T>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	chr11:3,988,876-3,988,876
hg38	chr11:3,967,646-3,967,646 View the variant detail on this assembly version.

HGVS

STIM1

Type	Transcript	Protein
RefSeq	NM_001277961.1:c.234T>C	NP_001264890.1:p.Asp78=
	NM_001277962.1:c.234T>C	NP_001264891.1:p.Asp78=
	NM_003156.3:c.234T>C	NP_003147.2:p.Asp78=
Ensemble	ENST00000616714.4:c.234T>C	ENST00000616714.4:p.Asp78=
	ENST00000698913.1:c.12T>C	ENST00000698913.1:p.Asp4=
	ENST00000698910.1:c.-219-56227T>C
	ENST00000698916.1:c.234T>C	ENST00000698916.1:p.Asp78=
	ENST00000698912.1:c.12T>C	ENST00000698912.1:p.Asp4=
	ENST00000698911.1:c.12T>C	ENST00000698911.1:p.Asp4=
	ENST00000527651.5:c.234T>C	ENST00000527651.5:p.Asp78=
	ENST00000525403.6:c.12T>C	ENST00000525403.6:p.Asp4=
	ENST00000698915.1:c.234T>C	ENST00000698915.1:p.Asp78=
	ENST00000526596.2:c.234T>C	ENST00000526596.2:p.Asp78=
	ENST00000698914.1:c.234T>C	ENST00000698914.1:p.Asp78=
	ENST00000300737.8:c.234T>C	ENST00000300737.8:p.Asp78=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Benign Likely benign
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
Benign	2024-01-11	criteria provided, single submitter	Myopathy with tubular aggregates,Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome	germline	Detail
Benign	2024-01-11	criteria provided, single submitter	Myopathy with tubular aggregates,Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome	germline	Detail
Benign	2024-01-11	criteria provided, single submitter	Myopathy with tubular aggregates,Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome	germline	Detail
Likely benign	2019-04-25	criteria provided, single submitter	STIM1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001382567.1(STIM1):c.234T>C (p.Asp78=) AND multiple conditions	ClinVar	Detail
NM_001382567.1(STIM1):c.234T>C (p.Asp78=) AND multiple conditions	ClinVar	Detail
NM_001382567.1(STIM1):c.234T>C (p.Asp78=) AND multiple conditions	ClinVar	Detail
NM_001382567.1(STIM1):c.234T>C (p.Asp78=) AND STIM1-related disorder	ClinVar	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: rs146126071 dbSNP
Genome: hg19
Position: chr11:3,988,876-3,988,876
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121404
Allele Counts in All Race (ExAC): 27
Heterozygous Counts in All Race (ExAC): 27
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.2239794405456162E-4

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