NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His) AND Elliptocytosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000403325.5
Allele description [Variation Report for NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His)]
NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His)
Condition(s)
- Name:
- Elliptocytosis
- Identifiers:
- MedGen: C0427480; Human Phenotype Ontology: HP:0004445
Assertion and evidence details
Last Updated: Sep 29, 2024