Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD p.Leu128= (p.L128=)
(
ENST00000369620.6,
ENST00000393562.10,
ENST00000393564.7,
ENST00000439227.6,
ENST00000696420.1,
ENST00000696421.1,
ENST00000696429.1,
ENST00000696430.1 )
G6PD p.Leu128Pro (p.L128P) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Ala127Ser (p.A127S) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Met125Ile (p.M125I) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Leu128= (p.L128=) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Leu128Pro (p.L128P) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Ala127Ser (p.A127S) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 )
G6PD p.Met125Ile (p.M125I) ( 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_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- ClinVar Allele ID
- 1660960
- ClinVar Allele ID
- 99404
- ClinVar Allele ID
- 1780230
- ClinVar Allele ID
- 1780229
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.384C>T
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.375G>T
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.379G>T
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.383T>C
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.473T>C
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.384C>T
- ClinVar RefSeq Alternation Syntax
- NM_001360016.2:c.375G>T
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.379G>T
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.474C>T
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.465G>T
- ClinVar RefSeq Alternation Syntax
- NM_001042351.3:c.383T>C
- ClinVar RefSeq Alternation Syntax
- NM_000402.4:c.469G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-08-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002305833
- ClinVar Disease
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Observed Origin Sample
- unknown
Drugs