NM_012179.4(FBXO7):c.-118T>G AND Parkinsonian-pyramidal syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000375116.5
Allele description [Variation Report for NM_012179.4(FBXO7):c.-118T>G]
NM_012179.4(FBXO7):c.-118T>G
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
-
cytochrome c oxidase subunit III (mitochondrion) [Puma concolor]
cytochrome c oxidase subunit III (mitochondrion) [Puma concolor]gi|364284071|ref|YP_004940594.1|Protein
-
LOC101507332 [Cicer arietinum]
LOC101507332 [Cicer arietinum]Gene ID:101507332Gene
-
LOC118187669 [Stegodyphus dumicola]
LOC118187669 [Stegodyphus dumicola]Gene ID:118187669Gene
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023