NM_000235.4(LIPA):c.42C>T (p.Leu14=) AND Wolman disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002060992.6
Allele description [Variation Report for NM_000235.4(LIPA):c.42C>T (p.Leu14=)]
NM_000235.4(LIPA):c.42C>T (p.Leu14=)
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
-
LOC8271760 [Ricinus communis]
LOC8271760 [Ricinus communis]Gene ID:8271760Gene
-
8271760[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024