Annotation Detail
Information
- Associated Genes
- RHAG
- Associated Variants
-
RHAG p.Pro52AspfsTer57 (p.P52Dfs*57)
(
ENST00000371175.10,
ENST00000646272.1,
ENST00000646939.1,
ENST00000646963.1 )
RHAG p.Pro52AspfsTer57 (p.P52Dfs*57) ( ENST00000371175.10, ENST00000646272.1, ENST00000646939.1, ENST00000646963.1 ) - Associated Disease
- Rh-null, regulator type
- Source Database
- ClinVar
- Description
- NM_000324.3(RHAG):c.154_157delinsGA (p.Pro52fs) AND Rh-null, regulator type
- ClinVar Allele ID
- 28096
- ClinVar RefSeq Alternation Syntax
- NM_000324.3:c.154_157delinsGA
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1996-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013932
- ClinVar Disease
- Rh-null, regulator type
- Observed Origin Sample
- germline
- Pubmed
- 8563755
Drugs