Annotation Detail
Information
- Associated Genes
- CDKN2A LOC130001603
- Associated Variants
-
CDKN2A c.-34G>T
(
ENST00000494262.5,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000579755.2 )
CDKN2A c.-34G>T ( ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579755.2 ) - Associated Disease
- melanoma and neural system tumor syndrome Melanoma, cutaneous malignant, susceptibility to, 2 Melanoma-pancreatic cancer syndrome
- Source Database
- ClinVar
- Description
- NM_058195.4(CDKN2A):c.194-3653G>T AND multiple conditions
- ClinVar Allele ID
- 180325
- ClinVar RefSeq Alternation Syntax
- NM_001363763.2:c.-3-3653G>T
- ClinVar RefSeq Alternation Syntax
- NM_058195.4:c.194-3653G>T
- ClinVar RefSeq Alternation Syntax
- NM_000077.5:c.-34G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763194
- ClinVar Disease
- Melanoma-pancreatic cancer syndrome
- ClinVar Disease
- Melanoma and neural system tumor syndrome
- ClinVar Disease
- Melanoma, cutaneous malignant, susceptibility to, 2
- Observed Origin Sample
- unknown
Drugs