NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) AND Bifunctional peroxisomal enzyme deficiency
- Germline classification:
- Uncertain significance (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:
- RCV000380697.6
Allele description [Variation Report for NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)]
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
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
-
Deficiency of transaldolase
Deficiency of transaldolaseMedGen
-
C1291329[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: May 19, 2024