Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A p.Ile49Thr (p.I49T)
(
ENST00000304494.10,
ENST00000494262.5,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000579122.1,
ENST00000579755.2 )
CDKN2A p.Ile49Thr (p.I49T) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND not provided
- ClinVar Allele ID
- 132980
- ClinVar RefSeq Alternation Syntax
- NM_000077.5:c.146T>C
- ClinVar RefSeq Alternation Syntax
- NM_001195132.2:c.146T>C
- ClinVar RefSeq Alternation Syntax
- NM_058197.5:c.146T>C
- ClinVar RefSeq Alternation Syntax
- NM_058195.4:c.194-3474T>C
- ClinVar RefSeq Alternation Syntax
- NM_001363763.2:c.-3-3474T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-05-08
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000212398
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs