Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A p.Gly101Trp (p.G101W)
(
ENST00000498124.1,
ENST00000497750.1,
ENST00000579122.1,
ENST00000494262.5,
ENST00000579755.2,
ENST00000530628.2,
ENST00000498628.6,
ENST00000578845.2,
ENST00000304494.10,
ENST00000479692.2 )
CDKN2A p.Gly101Trp (p.G101W) ( ENST00000304494.10, ENST00000498628.6, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000530628.2 ) - Associated Disease
- Melanoma-pancreatic cancer syndrome
- Source Database
- ClinVar
- Description
- NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) AND Melanoma-pancreatic cancer syndrome
- ClinVar Allele ID
- 24451
- ClinVar RefSeq Alternation Syntax
- NM_000077.5:c.301G>T
- ClinVar RefSeq Alternation Syntax
- NM_001195132.2:c.301G>T
- ClinVar RefSeq Alternation Syntax
- NM_058195.4:c.344G>T
- ClinVar RefSeq Alternation Syntax
- NM_001363763.2:c.148G>T
- ClinVar RefSeq Alternation Syntax
- NM_058197.5:c.*224G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010019
- ClinVar Disease
- Melanoma-pancreatic cancer syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10869234
- Pubmed
- 20340136
- Pubmed
- 11807902
- Pubmed
- 7987387
- Pubmed
- 8552158
- Pubmed
- 11579459
- Pubmed
- 8012957
- Pubmed
- 7666917
Drugs