Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD p.Asn126Asp (p.N126D)
(
ENST00000369620.6,
ENST00000393562.10,
ENST00000393564.7,
ENST00000439227.6,
ENST00000696420.1,
ENST00000696421.1,
ENST00000696429.1,
ENST00000696430.1 )
G6PD p.Val68Met (p.V68M) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Asn126Asp (p.N126D) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Val68Met (p.V68M) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 ) - Associated Disease
- G6PD deficiency
- Source Database
- ClinVar
- Description
- G6PD A- AND G6PD deficiency
- ClinVar Allele ID
- 25400
- ClinVar Allele ID
- 25399
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.466A>G
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.292G>A
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.202G>A
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.202G>A
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.376A>G
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.376A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-03-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000011075
- ClinVar Disease
- G6PD deficiency
- Observed Origin Sample
- germline
- Pubmed
- 669721
- Pubmed
- 7106752
- Pubmed
- 7291768
- Pubmed
- 4388132
- Pubmed
- 2912886
- Pubmed
- 2253938
- Pubmed
- 5492291
- Pubmed
- 2572288
- Pubmed
- 10734064
- Pubmed
- 5448
- Pubmed
- 2503817
- Pubmed
- 1303173
- Pubmed
- 1978554
- Pubmed
- 903703
- Pubmed
- 3393536
- Pubmed
- 2836867
Drugs