Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M)
(
ENST00000555147.2,
ENST00000555427.1,
ENST00000639847.1 )
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- Skin/hair/eye pigmentation 2, red hair/fair skin
- Source Database
- ClinVar
- Description
- NM_002386.4(MC1R):c.274G>A (p.Val92Met) AND Skin/hair/eye pigmentation 2, red hair/fair skin
- ClinVar Allele ID
- 29347
- ClinVar RefSeq Alternation Syntax
- NM_002386.4:c.274G>A
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2006-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015378
- ClinVar Disease
- Skin/hair/eye pigmentation 2, red hair/fair skin
- Observed Origin Sample
- germline
- Pubmed
- 7581459
- Pubmed
- 8944016
- Pubmed
- 16463023
- Pubmed
- 8990005
Drugs