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Variant : CV27239 (NG_012741.1:g.(?_5001)_(37693_?)del) Homo sapiens

Symbol: CV27239
Name: NG_012741.1:g.(?_5001)_(37693_?)del
Condition: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000012984]|Dysequilibrium syndrome [RCV000012984]
Clinical Significance: pathogenic
Last Evaluated: 12/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: del
Evidence: literature only
HGVS Name(s): NG_012741.1:g.(?_5001)_(37693_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,621,793 - 2,654,485CLINVAR
GRCh3792,621,793 - 2,654,485CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1; CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8562968
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.