NM_000235.4(LIPA):c.819T>C (p.Asn273=) AND Wolman disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002865968.3
Allele description [Variation Report for NM_000235.4(LIPA):c.819T>C (p.Asn273=)]
NM_000235.4(LIPA):c.819T>C (p.Asn273=)
Condition(s)
- Name:
- Wolman disease (WOLD)
- Synonyms:
- Acid cholesteryl ester hydrolase deficiency, Wolman type; Acid lipase disease; Wolman disease, CESD; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019148; MedGen: C0043208; OMIM: 620151
Assertion and evidence details
Last Updated: Sep 29, 2024