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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-03-08 | criteria provided, single submitter | Stormorken syndrome,Combined immunodeficiency due to STIM1 deficiency,Myopathy with tubular aggregates |
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Detail |
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2023-03-08 | criteria provided, single submitter | Stormorken syndrome,Combined immunodeficiency due to STIM1 deficiency,Myopathy with tubular aggregates |
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Detail |
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2023-03-08 | criteria provided, single submitter | Stormorken syndrome,Combined immunodeficiency due to STIM1 deficiency,Myopathy with tubular aggregates |
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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>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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