Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A p.Met53Ile (p.M53I)
(
ENST00000304494.10,
ENST00000479692.2,
ENST00000494262.5,
ENST00000497750.1,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000578845.2,
ENST00000579122.1,
ENST00000579755.2 )
CDKN2A p.Met53Ile (p.M53I) ( ENST00000578845.2, ENST00000579122.1, ENST00000579755.2, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2 ) - Associated Disease
- familial melanoma
- Source Database
- ClinVar
- Description
- NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) AND Familial melanoma
- ClinVar Allele ID
- 24453
- ClinVar RefSeq Alternation Syntax
- NM_001363763.2:c.6G>C
- ClinVar RefSeq Alternation Syntax
- NM_000077.5:c.159G>C
- ClinVar RefSeq Alternation Syntax
- NM_001195132.2:c.159G>C
- ClinVar RefSeq Alternation Syntax
- NM_058195.4:c.202G>C
- ClinVar RefSeq Alternation Syntax
- NM_058197.5:c.*82G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000205342
- ClinVar Disease
- Familial melanoma
- Observed Origin Sample
- germline
Drugs