Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Asp294His (p.D294H), ENSG00000198211 p.Asp294His (p.D294H)
(
ENST00000639847.1,
ENST00000555427.1,
ENST00000555147.2 )
MC1R p.Asp294His (p.D294H), ENSG00000198211 p.Asp294His (p.D294H) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- Tyrosinase-positive oculocutaneous albinism
- Source Database
- ClinVar
- Description
- NM_002386.4(MC1R):c.880G>C (p.Asp294His) AND Tyrosinase-positive oculocutaneous albinism
- ClinVar Allele ID
- 29346
- ClinVar RefSeq Alternation Syntax
- NM_002386.4:c.880G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-09-22
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000662303
- ClinVar Disease
- Tyrosinase-positive oculocutaneous albinism
- Observed Origin Sample
- germline
Drugs