Annotation Detail
Information
- Associated Genes
- SLC45A2
- Associated Variants
-
SLC45A2 p.Leu374Phe (p.L374F)
(
ENST00000296589.9,
ENST00000382102.7,
ENST00000509381.1 )
SLC45A2 p.Leu374Phe (p.L374F) ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 ) - Associated Disease
- Oculocutaneous albinism type 4
- Source Database
- ClinVar
- Description
- NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) AND Oculocutaneous albinism type 4
- ClinVar Allele ID
- 194990
- ClinVar RefSeq Alternation Syntax
- NM_001012509.4:c.1122G>C
- ClinVar RefSeq Alternation Syntax
- NM_001297417.4:c.*64G>C
- ClinVar RefSeq Alternation Syntax
- NM_016180.5:c.1122G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001808456
- ClinVar Disease
- Oculocutaneous albinism type 4
- Observed Origin Sample
- germline
Drugs