Annotation Detail
Information
- Associated Genes
- IRF4
- Associated Variants
-
IRF4 c.492+386C>T
(
ENST00000380956.9,
ENST00000696871.1 )
IRF4 c.492+386C>T ( ENST00000380956.9, ENST00000696871.1 ) - Associated Disease
- Skin/hair/eye pigmentation, variation in, 8
- Source Database
- ClinVar
- Description
- NM_002460.4(IRF4):c.492+386C>T AND Skin/hair/eye pigmentation, variation in, 8
- ClinVar Allele ID
- 170189
- ClinVar RefSeq Alternation Syntax
- NM_002460.4:c.492+386C>T
- ClinVar RefSeq Alternation Syntax
- NM_001195286.2:c.492+386C>T
- Clinical Significance Description
- Affects
- Clinical Significance Last Update
- 2015-07-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000148012
- ClinVar Disease
- Skin/hair/eye pigmentation, variation in, 8
- Observed Origin Sample
- germline
- Pubmed
- 18483556
- Pubmed
- 24267888
- Pubmed
- 25631878
Drugs