Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.Lys750Asn (p.K750N)
(
ENST00000601453.3,
ENST00000531525.3,
ENST00000713844.1,
ENST00000675843.1,
ENST00000278616.10,
ENST00000452508.7 )
ATM p.Lys750Asn (p.K750N) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- Ataxia-telangiectasia syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.2250G>C (p.Lys750Asn) AND Ataxia-telangiectasia syndrome
- ClinVar Allele ID
- 1479645
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.2250G>C
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.2250G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-08-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001889736
- ClinVar Disease
- Ataxia-telangiectasia syndrome
- Observed Origin Sample
- germline
Drugs