Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A R10Q
(
ENST00000494262.5,
ENST00000498628.6,
ENST00000530628.2,
ENST00000579755.2 )
CDKN2A R10Q ( ENST00000494262.5, ENST00000498628.6, ENST00000530628.2, ENST00000579755.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_058195.4(CDKN2A):c.29G>A (p.Arg10Gln) AND not provided
- ClinVar Allele ID
- 1311103
- ClinVar RefSeq Alternation Syntax
- NM_001363763.2:c.-4+518G>A
- ClinVar RefSeq Alternation Syntax
- NM_058195.4:c.29G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-03-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001776838
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs