chr22:17589246:G>A Detail (hg19) (IL17RA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:17,589,246-17,589,246 |
| hg38 | chr22:17,108,356-17,108,356 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014339.6:c.1137G>A | NP_055154.3:p.Lys379= |
| NM_001289905.1:c.1035G>A | NP_001276834.1:p.Lys345= | |
| Ensemble | ENST00000319363.11:c.1137G>A | ENST00000319363.11:p.Lys379= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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
|
2016-06-14 | criteria provided, single submitter | Familial Candidiasis, Recessive |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | immunodeficiency 51 |
germline
|
Detail |
|
Benign
|
2024-01-24 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | squamous cell carcinoma | Statistically significant risks were observed for HPV16-containing SCC of the ce... | BeFree | 26241630 | Detail |
| 0.025 | squamous cell carcinoma | Statistically significant risks were observed for HPV16-containing SCC of the ce... | BeFree | 26241630 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_014339.7(IL17RA):c.1137G>A (p.Lys379=) AND Familial Candidiasis, Recessive | ClinVar | Detail |
| NM_014339.7(IL17RA):c.1137G>A (p.Lys379=) AND Immunodeficiency 51 | ClinVar | Detail |
| NM_014339.7(IL17RA):c.1137G>A (p.Lys379=) AND not specified | ClinVar | Detail |
| Statistically significant risks were observed for HPV16-containing SCC of the cervix with the varian... | DisGeNET | Detail |
| Statistically significant risks were observed for HPV16-containing SCC of the cervix with the varian... | 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
- rs879576 dbSNP
- Genome
- hg19
- Position
- chr22:17,589,246-17,589,246
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1204
- Mean of sample read depth (HGVD)
- 42.81
- Standard deviation of sample read depth (HGVD)
- 19.22
- Number of reference allele (HGVD)
- 2406
- Number of alternative allele (HGVD)
- 2
- Allele Frequency (HGVD)
- 8.305647840531562E-4
- Gene Symbol (HGVD)
- IL17RA
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 3.4714186530895625E-4
- Chromosome Counts in All Race (ExAC)
- 121072
- Allele Counts in All Race (ExAC)
- 13963
- Heterozygous Counts in All Race (ExAC)
- 11921
- Homozygous Counts in All Race (ExAC)
- 1021
- Allele Frequency in All Race (ExAC)
- 0.11532806924805075
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