NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) AND Autosomal recessive sideroblastic anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000785079.3
Allele description [Variation Report for NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)]
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)
Condition(s)
- Name:
- Autosomal recessive sideroblastic anemia
- Identifiers:
- MONDO: MONDO:0016828; MedGen: C4274077
Assertion and evidence details
Last Updated: May 24, 2022