NM_012179.4(FBXO7):c.117G>T (p.Gly39=) AND Parkinsonian-pyramidal syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003506662.1
Allele description [Variation Report for NM_012179.4(FBXO7):c.117G>T (p.Gly39=)]
NM_012179.4(FBXO7):c.117G>T (p.Gly39=)
Condition(s)
- Name:
- Parkinsonian-pyramidal syndrome
- Synonyms:
- PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE; Pallidopyramidal syndrome; Pallido-pyramidal disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009830; MedGen: C1850100; Orphanet: 171695; OMIM: 260300
-
butyrophilin subfamily 2 member A2 isoform a precursor [Homo sapiens]
butyrophilin subfamily 2 member A2 isoform a precursor [Homo sapiens]gi|308522746|ref|NP_001184166.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024