chr2:204825346:C>T Detail (hg19) (ICOS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:204,825,346-204,825,346 |
| hg38 | chr2:203,960,623-203,960,623 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_012092.3:c.*1024C>T | |
| Ensemble | ENST00000316386.11:c.*1024C>T | |
| ENST00000435193.1:c.*1032C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.020 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2018-03-06 | criteria provided, single submitter | Immunodeficiency, common variable, 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Generalized vitiligo | Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11... | BeFree | 18200060 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_012092.4(ICOS):c.*1024C>T AND Immunodeficiency, common variable, 1 | ClinVar | Detail |
| Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11571302, rs11571297, ... | 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
- rs10932037 dbSNP
- Genome
- hg19
- Position
- chr2:204,825,346-204,825,346
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs10932037
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0201
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 337
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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