Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W)
(
ENST00000555147.2,
ENST00000639847.1,
ENST00000555427.1 )
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) AND not specified
- ClinVar Allele ID
- 29349
- ClinVar RefSeq Alternation Syntax
- NM_002386.4:c.478C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000244718
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs