NM_001360016.2(G6PD):c.1458-13C>G AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001520546.15
Allele description [Variation Report for NM_001360016.2(G6PD):c.1458-13C>G]
NM_001360016.2(G6PD):c.1458-13C>G
Condition(s)
- Name:
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1)
- Synonyms:
- Hemolytic anemia due to G6PD deficiency; Favism, susceptibility to; Class I glucose-6-phosphate dehydrogenase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010480; MedGen: C2720289; Orphanet: 466026; OMIM: 300908
Assertion and evidence details
Last Updated: Oct 26, 2024