chr11:3988881:A>G Detail (hg19) (STIM1)

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

Type Transcript Protein
RefSeq NM_003156.3:c.239A>G NP_003147.2:p.Asn80Ser
NM_001277961.1:c.239A>G NP_001264890.1:p.Asn80Ser
NM_001277962.1:c.239A>G NP_001264891.1:p.Asn80Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv41413074 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-03-08 criteria provided, single submitter Stormorken syndrome,Combined immunodeficiency due to STIM1 deficiency,Myopathy with tubular aggregates germline Detail
Uncertain significance 2023-03-08 criteria provided, single submitter Stormorken syndrome,Combined immunodeficiency due to STIM1 deficiency,Myopathy with tubular aggregates germline Detail
Uncertain significance 2023-03-08 criteria provided, single submitter Stormorken syndrome,Combined immunodeficiency due to STIM1 deficiency,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

DescrptionSourceLinks
NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser) AND multiple conditions ClinVar Detail
NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser) AND multiple conditions ClinVar Detail
NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser) 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
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs748277951
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4666050381326557E-4
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4710475594286937E-5
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