Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A c.*233C>T
(
ENST00000304494.10,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000578845.2,
ENST00000579122.1,
ENST00000579755.2 )
CDKN2A c.*233C>T ( ENST00000304494.10, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000077.5(CDKN2A):c.*69C>T AND not provided
- ClinVar Allele ID
- 1215969
- ClinVar RefSeq Alternation Syntax
- NM_058197.5:c.*463C>T
- ClinVar RefSeq Alternation Syntax
- NM_001195132.2:c.*233C>T
- ClinVar RefSeq Alternation Syntax
- NM_058195.4:c.*184C>T
- ClinVar RefSeq Alternation Syntax
- NM_000077.5:c.*69C>T
- ClinVar RefSeq Alternation Syntax
- NM_001363763.2:c.*69C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-03-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001609158
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs