NM_000414.4(HSD17B4):c.605dup (p.Thr203fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001975004.4
Allele description [Variation Report for NM_000414.4(HSD17B4):c.605dup (p.Thr203fs)]
NM_000414.4(HSD17B4):c.605dup (p.Thr203fs)
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
-
LOC125620603 [Caretta caretta]
LOC125620603 [Caretta caretta]Gene ID:125620603Gene
-
Transforming Growth Factor beta3
Transforming Growth Factor beta3A TGF-beta subtype that plays role in regulating epithelial-mesenchymal interaction during embryonic development. It is synthesized as a precursor molecule that is cleaved to ...<br/>Year introduced: 2007(2000)MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024