Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD p.Arg439Pro (p.R439P)
(
ENST00000369620.6,
ENST00000393562.10,
ENST00000393564.7,
ENST00000439227.6,
ENST00000696420.1,
ENST00000696421.1,
ENST00000696429.1,
ENST00000696430.1 )
G6PD p.Arg439Pro (p.R439P) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 ) - Associated Disease
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Source Database
- ClinVar
- Description
- NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- ClinVar Allele ID
- 25438
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.1406G>C
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.1316G>C
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.1316G>C
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-09-30
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000011139
- ClinVar Disease
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 6344088
Drugs