Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A p.Pro48Thr (p.P48T)
(
ENST00000304494.10,
ENST00000494262.5,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000579122.1,
ENST00000579755.2 )
CDKN2A p.Pro48Thr (p.P48T) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 186094
- ClinVar RefSeq Alternation Syntax
- NM_001363763.2:c.-3-3478C>A
- ClinVar RefSeq Alternation Syntax
- NM_058197.5:c.142C>A
- ClinVar RefSeq Alternation Syntax
- NM_001195132.2:c.142C>A
- ClinVar RefSeq Alternation Syntax
- NM_000077.5:c.142C>A
- ClinVar RefSeq Alternation Syntax
- NM_058195.4:c.194-3478C>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-05-06
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001183314
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs