Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W)
(
ENST00000555147.2,
ENST00000639847.1,
ENST00000555427.1 )
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- Increased analgesia from kappa-opioid receptor agonist, female-specific
- Source Database
- ClinVar
- Description
- NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) AND Increased analgesia from kappa-opioid receptor agonist, female-specific
- ClinVar Allele ID
- 29349
- ClinVar RefSeq Alternation Syntax
- NM_002386.4:c.478C>T
- Clinical Significance Description
- Affects
- Clinical Significance Last Update
- 2015-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015382
- ClinVar Disease
- Increased analgesia from kappa-opioid receptor agonist, female-specific
- Observed Origin Sample
- germline
- Pubmed
- 15994880
- Pubmed
- 24439955
- Pubmed
- 17952075
- Pubmed
- 26389967
- Pubmed
- 25631192
- Pubmed
- 26389780
- Pubmed
- 12876664
- Pubmed
- 9665397
Drugs