Annotation Detail
Information
- Associated Genes
- SLC45A2
- Associated Variants
-
SLC45A2 p.Glu272Lys (p.E272K)
(
ENST00000509381.1,
ENST00000382102.7,
ENST00000296589.9 )
SLC45A2 p.Glu272Lys (p.E272K) ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 ) - Associated Disease
- Skin/hair/eye pigmentation, variation in, 5
- Source Database
- ClinVar
- Description
- NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) AND Skin/hair/eye pigmentation, variation in, 5
- ClinVar Allele ID
- 19543
- ClinVar RefSeq Alternation Syntax
- NM_001012509.4:c.814G>A
- ClinVar RefSeq Alternation Syntax
- NM_001297417.4:c.563-9261G>A
- ClinVar RefSeq Alternation Syntax
- NM_016180.5:c.814G>A
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2018-02-13
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004762
- ClinVar Disease
- Skin/hair/eye pigmentation, variation in, 5
- Observed Origin Sample
- germline
- Pubmed
- 15714523
Drugs