NM_207111.4(RNF216):c.986G>A (p.Trp329Ter) AND Cerebellar ataxia-hypogonadism syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003153225.1
Allele description [Variation Report for NM_207111.4(RNF216):c.986G>A (p.Trp329Ter)]
NM_207111.4(RNF216):c.986G>A (p.Trp329Ter)
Condition(s)
- Name:
- Cerebellar ataxia-hypogonadism syndrome
- Synonyms:
- LHRH DEFICIENCY AND ATAXIA; Gordon Holmes syndrome; Luteinizing hormone releasing hormone, deficiency of with ataxia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008935; MedGen: C1859305; Orphanet: 1173; OMIM: 212840
-
BioProject Links for SRA (Select 10686102) (1)
BioProject
-
RecName: Full=Synaptosomal-associated protein 25; Short=SNAP-25; AltName: Full=S...
RecName: Full=Synaptosomal-associated protein 25; Short=SNAP-25; AltName: Full=Super protein; Short=SUP; AltName: Full=Synaptosomal-associated 25 kDa proteingi|46397726|sp|P60880.1|SNP25_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Mar 26, 2023