chr19:10463118:G>C Detail (hg19) (TYK2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:10,463,118-10,463,118 |
hg38 | chr19:10,352,442-10,352,442 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003331.4:c.3310C>G | NP_003322.3:p.Pro1104Ala |
Ensemble | ENST00000524462.5:c.2755C>G | ENST00000524462.5:p.Pro919Ala |
ENST00000525621.6:c.3310C>G | ENST00000525621.6:p.Pro1104Ala |
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 |
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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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2014-04-28 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2024-01-31 | criteria provided, multiple submitters, no conflicts | immunodeficiency 35 |
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Detail |
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no assertion criteria provided | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.004 | Autoimmune Diseases | In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which ... | BeFree | 23359498 | Detail |
0.241 | rheumatoid arthritis | Genetics of rheumatoid arthritis contributes to biology and drug discovery. | GWASCAT | 24390342 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) AND not specified | ClinVar | Detail |
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) AND Immunodeficiency 35 | ClinVar | Detail |
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) AND not provided | ClinVar | Detail |
In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which have been associated... | DisGeNET | Detail |
Genetics of rheumatoid arthritis contributes to biology and drug discovery. | 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
- rs34536443 dbSNP
- Genome
- hg19
- Position
- chr19:10,463,118-10,463,118
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8620
- 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)
- 118878
- Allele Counts in All Race (ExAC)
- 3250
- Heterozygous Counts in All Race (ExAC)
- 3120
- Homozygous Counts in All Race (ExAC)
- 65
- Allele Frequency in All Race (ExAC)
- 0.027338952539578392
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