Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD p.Val213Leu (p.V213L)
(
ENST00000369620.6,
ENST00000393562.10,
ENST00000393564.7,
ENST00000439227.6,
ENST00000696420.1,
ENST00000696421.1,
ENST00000696429.1,
ENST00000696430.1 )
G6PD p.Val213Leu (p.V213L) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 ) - Source Database
- ClinVar
- Description
- NM_000402.4(G6PD):c.727G>T (p.Val243Leu) AND Abnormal circulating glucose-6-phosphate dehydrogenase concentration
- ClinVar Allele ID
- 25422
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.637G>T
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.637G>T
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.727G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-12-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002287328
- Observed Origin Sample
- unknown
Drugs