Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Asp294Asn (p.D294N), ENSG00000198211 p.Asp294Asn (p.D294N)
(
ENST00000555147.2,
ENST00000555427.1,
ENST00000639847.1 )
MC1R p.Asp294Asn (p.D294N), ENSG00000198211 p.Asp294Asn (p.D294N) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- Melanoma, cutaneous malignant, susceptibility to, 5
- Source Database
- ClinVar
- Description
- NM_002386.4(MC1R):c.880G>A (p.Asp294Asn) AND Melanoma, cutaneous malignant, susceptibility to, 5
- ClinVar Allele ID
- 844621
- ClinVar RefSeq Alternation Syntax
- NM_002386.4:c.880G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-03-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001067485
- ClinVar Disease
- Melanoma, cutaneous malignant, susceptibility to, 5
- Observed Origin Sample
- germline
Drugs