NM_016006.6(ABHD5):c.444C>T (p.Ile148=) AND Triglyceride storage disease with ichthyosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001145294.4
Allele description [Variation Report for NM_016006.6(ABHD5):c.444C>T (p.Ile148=)]
NM_016006.6(ABHD5):c.444C>T (p.Ile148=)
Condition(s)
- Name:
- Triglyceride storage disease with ichthyosis (CDS)
- Synonyms:
- Triglyceride storage disease with impaired long-chain fatty acid oxidation; Neutral lipid storage disease with ichthyotic; Ichthyosiform erythroderma with leukocyte vacuolation; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010155; MedGen: C0268238; Orphanet: 98907; OMIM: 275630
Assertion and evidence details
Last Updated: Feb 28, 2024