Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A p.Val126Asp (p.V126D)
(
ENST00000304494.10,
ENST00000479692.2,
ENST00000494262.5,
ENST00000497750.1,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000578845.2,
ENST00000579122.1,
ENST00000579755.2 )
CDKN2A p.Val126Asp (p.V126D) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 ) - Associated Disease
- melanoma and neural system tumor syndrome
- Source Database
- ClinVar
- Description
- NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND Melanoma and neural system tumor syndrome
- ClinVar Allele ID
- 24459
- ClinVar RefSeq Alternation Syntax
- NM_001363763.2:c.224T>A
- ClinVar RefSeq Alternation Syntax
- NM_001195132.2:c.377T>A
- ClinVar RefSeq Alternation Syntax
- NM_058197.5:c.*300T>A
- ClinVar RefSeq Alternation Syntax
- NM_000077.5:c.377T>A
- ClinVar RefSeq Alternation Syntax
- NM_058195.4:c.*21T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003473078
- ClinVar Disease
- Melanoma and neural system tumor syndrome
- Observed Origin Sample
- unknown
Drugs