Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.Asp1682His (p.D1682H)
(
ENST00000452508.7,
ENST00000278616.10,
ENST00000601453.3,
ENST00000675843.1,
ENST00000713844.1 )
ATM p.Asp1682His (p.D1682H) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- T-cell prolymphocytic leukemia
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.5044G>C (p.Asp1682His) AND T-cell prolymphocytic leukemia
- ClinVar Allele ID
- 18065
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.5044G>C
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.5044G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003165
- ClinVar Disease
- T-cell prolymphocytic leukemia
- Observed Origin Sample
- somatic
- Pubmed
- 9288106
Drugs