NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000206595.9
Allele description [Variation Report for NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)]
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
100488357[uid] AND (alive[prop]) (1)
Gene
-
sec16b SEC16 homolog B, endoplasmic reticulum export factor [Xenopus tropicalis]
sec16b SEC16 homolog B, endoplasmic reticulum export factor [Xenopus tropicalis]Gene ID:100488357Gene
-
SRR942767 (1)
SRA
-
ptr1 [Schizosaccharomyces pombe]
ptr1 [Schizosaccharomyces pombe]Gene ID:2542537Gene
-
2542537[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: May 12, 2024