Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Ala2067Asp (p.A2067D)
(
ENST00000525729.5,
ENST00000452508.7,
ENST00000278616.10,
ENST00000675843.1,
ENST00000713844.1,
ENST00000601453.3 )
ATM p.Ala2067Asp (p.A2067D) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND not provided
- ClinVar Allele ID
- 48348
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.6200C>A
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-8303G>T
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.6200C>A
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*39-8303G>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2021-11-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001268054
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs