NM_004056.6(CA8):c.475A>T (p.Lys159Ter) AND Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 8, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000625736.1
Allele description [Variation Report for NM_004056.6(CA8):c.475A>T (p.Lys159Ter)]
NM_004056.6(CA8):c.475A>T (p.Lys159Ter)
Condition(s)
- Name:
- Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 (CAMRQ3)
- Synonyms:
- CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
- Identifiers:
- MONDO: MONDO:0013188; MedGen: C2750509; Orphanet: 1766; OMIM: 613227
Assertion and evidence details
Last Updated: Aug 5, 2023