NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) AND Bifunctional peroxisomal enzyme deficiency
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000353669.14
Allele description [Variation Report for NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)]
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
Condition(s)
- Name:
- Bifunctional peroxisomal enzyme deficiency (DBIF)
- Synonyms:
- D-bifunctional protein deficiency; DBP deficiency; D-bifunctional enzyme deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009855; MedGen: C0342870; OMIM: 261515
Assertion and evidence details
Last Updated: May 7, 2024