NM_003383.5(VLDLR):c.1313-17A>T AND Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002243444.1
Allele description [Variation Report for NM_003383.5(VLDLR):c.1313-17A>T]
NM_003383.5(VLDLR):c.1313-17A>T
Condition(s)
- Name:
- Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (CAMRQ1)
- Synonyms:
- CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1; CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE; Cerebellar hypoplasia, VLDLR associated; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024542; MedGen: C4551552; Orphanet: 1766; OMIM: 224050
Assertion and evidence details
Last Updated: Mar 5, 2024