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Variant : CV325263 (NM_152722.5(HEPACAM):c.*1283_*1285CCT[2]) Homo sapiens

Symbol: CV325263
Name: NM_152722.5(HEPACAM):c.*1283_*1285CCT[2]
Condition: Megalencephalic leukoencephalopathy with subcortical cysts [RCV000341822]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: HEPACAM   HEPN1  
Variant Type: microsatellite (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_152722.4:c.*1289_*1291delCCT
NP_001032647.2:p.Arg35del
NM_152722.5:c.*1283_*1285CCT[2]
NM_001037558.2:c.97_99AGG[2]
NG_029603.1:g.21558_21560CCT[2]
NC_000011.10:g.124919847_124919849AGG[2]
NC_000011.9:g.124789743_124789745AGG[2]
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,919,847 - 124,919,849CLINVAR
GRCh3711124,789,743 - 124,789,745CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: VAN DER KNAAP DISEASE




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11620876
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-08-04
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.