Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD p.Leu323Pro (p.L323P)
(
ENST00000369620.6,
ENST00000393562.10,
ENST00000393564.7,
ENST00000439227.6,
ENST00000696420.1,
ENST00000696421.1,
ENST00000696429.1,
ENST00000696430.1 )
G6PD p.Leu323Pro (p.L323P) ( 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.968T>C (p.Leu323Pro) AND G6PD deficiency
- ClinVar Allele ID
- 25427
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.1058T>C
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.968T>C
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.968T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-01-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000011119
- ClinVar Disease
- G6PD deficiency
- Observed Origin Sample
- germline
- Pubmed
- 2836867
Drugs