Annotation Detail
Information
- Associated Genes
- GPR143
- Associated Variants
-
GPR143 c.767+10C>G
(
ENST00000467482.6 )
GPR143 c.767+10C>G ( ENST00000467482.6 ) - Associated Disease
- Ocular albinism, type I
- Source Database
- ClinVar
- Description
- NM_000273.3(GPR143):c.767+10C>G AND Ocular albinism, type I
- ClinVar Allele ID
- 257889
- ClinVar RefSeq Alternation Syntax
- NM_000273.3:c.767+10C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001701887
- ClinVar Disease
- Ocular albinism, type I
- Observed Origin Sample
- germline
Drugs