NM_000414.4(HSD17B4):c.505T>C (p.Leu169=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003043605.2
Allele description [Variation Report for NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)]
NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)
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 kinesin family member 3C, mRNA (cDNA clone MGC:102751 IMAGE:6504352...
Homo sapiens kinesin family member 3C, mRNA (cDNA clone MGC:102751 IMAGE:6504352), complete cdsgi|62531141|gb|BC092406.1|Nucleotide
-
Homo sapiens kinesin family member 3C, mRNA (cDNA clone MGC:164414 IMAGE:4014680...
Homo sapiens kinesin family member 3C, mRNA (cDNA clone MGC:164414 IMAGE:40146805), complete cdsgi|124376173|gb|BC132783.1|Nucleotide
-
Maxillofacial Osteoid Osteoma
Maxillofacial Osteoid OsteomaMedGen
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024