NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Aug 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001379702.8
Allele description [Variation Report for NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)]
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024