NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000688945.11
Allele description [Variation Report for NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)]
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
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
-
Homo sapiens mRNA; cDNA DKFZp586L0118 (from clone DKFZp586L0118)
Homo sapiens mRNA; cDNA DKFZp586L0118 (from clone DKFZp586L0118)gi|12053320|emb|AL136913.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024