NM_000235.4(LIPA):c.112-6C>A AND Wolman disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003597590.1
Allele description [Variation Report for NM_000235.4(LIPA):c.112-6C>A]
NM_000235.4(LIPA):c.112-6C>A
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
-
solute carrier family 12 member 1 isoform A [Homo sapiens]
solute carrier family 12 member 1 isoform A [Homo sapiens]gi|134254459|ref|NP_000329.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024