Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C)
(
ENST00000555147.2,
ENST00000555427.1,
ENST00000639847.1 )
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
- Source Database
- ClinVar
- Description
- NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) AND OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
- ClinVar Allele ID
- 29351
- ClinVar RefSeq Alternation Syntax
- NM_002386.4:c.451C>T
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2015-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015387
- ClinVar Disease
- OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
- Observed Origin Sample
- germline
- Pubmed
- 15994880
- Pubmed
- 16463023
- Pubmed
- 24439955
- Pubmed
- 9571181
- Pubmed
- 17952075
- Pubmed
- 25631192
- Pubmed
- 19194882
- Pubmed
- 12876664
Drugs