Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A p.Ala76CysfsTer64 (p.A76Cfs*64)
(
ENST00000304494.10,
ENST00000479692.2,
ENST00000494262.5,
ENST00000497750.1,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000578845.2,
ENST00000579122.1,
ENST00000579755.2 )
CDKN2A p.Ala76CysfsTer64 (p.A76Cfs*64) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 ) - Associated Disease
- Melanoma-pancreatic cancer syndrome
- Source Database
- ClinVar
- Description
- NM_000077.5(CDKN2A):c.226_244del (p.Ala76fs) AND Melanoma-pancreatic cancer syndrome
- ClinVar Allele ID
- 24449
- ClinVar RefSeq Alternation Syntax
- NM_001195132.2:c.226_244del
- ClinVar RefSeq Alternation Syntax
- NM_058195.4:c.269_287del
- ClinVar RefSeq Alternation Syntax
- NM_001363763.2:c.73_91del
- ClinVar RefSeq Alternation Syntax
- NM_058197.5:c.*149_*167del
- ClinVar RefSeq Alternation Syntax
- NM_000077.5:c.226_244del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010015
- ClinVar Disease
- Melanoma-pancreatic cancer syndrome
- Observed Origin Sample
- unknown
- Pubmed
- 7670475
- Pubmed
- 22636603
- Pubmed
- 10956390
- Pubmed
- 10400925
- Pubmed
- 12549483
Drugs