Annotation Detail
Information
- Associated Genes
- JAK1
- Associated Variants
-
JAK1 p.Ser703Ile (p.S703I)
(
ENST00000672751.2,
ENST00000673046.1,
ENST00000673246.2,
ENST00000699312.1,
ENST00000671929.2,
ENST00000699259.1,
ENST00000673254.1,
ENST00000672574.2,
ENST00000672179.2,
ENST00000671954.2,
ENST00000699310.1,
ENST00000699262.1,
ENST00000699260.1,
ENST00000342505.5,
ENST00000672247.2,
ENST00000672434.2 )
JAK1 p.Ser703Ile (p.S703I) ( ENST00000342505.5, ENST00000672179.2, ENST00000672247.2, ENST00000672434.2, ENST00000672574.2, ENST00000672751.2, ENST00000673046.1, ENST00000673246.2, ENST00000671929.2, ENST00000671954.2, ENST00000673254.1, ENST00000699259.1, ENST00000699260.1, ENST00000699262.1, ENST00000699310.1, ENST00000699312.1 ) - Associated Disease
- Autoinflammation, immune dysregulation, and eosinophilia
- Source Database
- ClinVar
- Description
- NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile) AND Autoinflammation, immune dysregulation, and eosinophilia
- ClinVar Allele ID
- 965590
- ClinVar RefSeq Alternation Syntax
- NM_001321852.2:c.2108G>T
- ClinVar RefSeq Alternation Syntax
- NM_001321856.2:c.2108G>T
- ClinVar RefSeq Alternation Syntax
- NM_002227.4:c.2108G>T
- ClinVar RefSeq Alternation Syntax
- NM_001321854.2:c.2108G>T
- ClinVar RefSeq Alternation Syntax
- NM_001321853.2:c.2108G>T
- ClinVar RefSeq Alternation Syntax
- NM_001321855.2:c.2108G>T
- ClinVar RefSeq Alternation Syntax
- NM_001321857.2:c.2105G>T
- ClinVar RefSeq Alternation Syntax
- NM_001320923.2:c.2108G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001255135
- ClinVar Disease
- Autoinflammation, immune dysregulation, and eosinophilia
- Observed Origin Sample
- unknown
- Pubmed
- 32750333
Drugs