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
- Skin/hair/eye pigmentation 2, blond hair/fair skin
- Source Database
- ClinVar
- Description
- NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND Skin/hair/eye pigmentation 2, blond hair/fair skin
- ClinVar Allele ID
- 29350
- ClinVar RefSeq Alternation Syntax
- NM_002386.4:c.178G>T
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 1997-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015384
- ClinVar Disease
- Skin/hair/eye pigmentation 2, blond hair/fair skin
- Observed Origin Sample
- germline
- Pubmed
- 9302268
Drugs