Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Val60Leu (p.V60L), ENSG00000198211 p.Val60Leu (p.V60L)
(
ENST00000555147.2,
ENST00000555427.1,
ENST00000639847.1 )
MC1R p.Val60Leu (p.V60L), ENSG00000198211 p.Val60Leu (p.V60L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND not specified
- ClinVar Allele ID
- 29350
- ClinVar RefSeq Alternation Syntax
- NM_002386.4:c.178G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-02-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000242490
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs