Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Arg163Gln (p.R163Q), ENSG00000198211 p.Arg163Gln (p.R163Q)
(
ENST00000639847.1,
ENST00000555427.1,
ENST00000555147.2 )
MC1R p.Arg163Gln (p.R163Q), ENSG00000198211 p.Arg163Gln (p.R163Q) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) AND not provided
- ClinVar Allele ID
- 256010
- ClinVar RefSeq Alternation Syntax
- NM_002386.4:c.488G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001683032
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs