Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD p.Asp350His (p.D350H)
(
ENST00000369620.6,
ENST00000393562.10,
ENST00000393564.7,
ENST00000439227.6,
ENST00000696420.1,
ENST00000696421.1,
ENST00000696429.1,
ENST00000696430.1 )
G6PD p.Asp350His (p.D350H) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 ) - Associated Disease
- G6PD deficiency
- Source Database
- ClinVar
- Description
- NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) AND G6PD deficiency
- ClinVar Allele ID
- 99394
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.1048G>C
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.1048G>C
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.1138G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-04-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001166654
- ClinVar Disease
- G6PD deficiency
- Observed Origin Sample
- germline
Drugs