NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003812921.2
Allele description [Variation Report for NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)]
NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)
Condition(s)
- Name:
- Bifunctional peroxisomal enzyme deficiency (DBIF)
- Synonyms:
- DBP DEFICIENCY; PBFE DEFICIENCY; D-bifunctional protein deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009855; MedGen: C0342870; OMIM: 261515
Assertion and evidence details
Last Updated: Jan 13, 2025