NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) AND Pyropoikilocytosis, hereditary
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000302703.12
Allele description [Variation Report for NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)]
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
Condition(s)
- Name:
- Pyropoikilocytosis, hereditary
- Synonyms:
- Pyropoikilocytosis
- Identifiers:
- MONDO: MONDO:0009948; MedGen: C0520739; OMIM: 266140; Human Phenotype Ontology: HP:0004839
Assertion and evidence details
Last Updated: Nov 24, 2024