NM_000996.4(RPL35A):c.*14C>A AND Diamond-Blackfan anemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 1, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002319482.3
Allele description [Variation Report for NM_000996.4(RPL35A):c.*14C>A]
NM_000996.4(RPL35A):c.*14C>A
Condition(s)
- Name:
- Diamond-Blackfan anemia
- Synonyms:
- Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810
Assertion and evidence details
Last Updated: May 12, 2024