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Variant : CV325250 (NM_152722.5(HEPACAM):c.*1799T>C) Homo sapiens

Symbol: CV325250
Name: NM_152722.5(HEPACAM):c.*1799T>C
Condition: Megalencephalic leukoencephalopathy with subcortical cysts [RCV000280384]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: HEPACAM   HEPN1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_029603.1:g.22074T>C
NC_000011.10:g.124919339A>G
NC_000011.9:g.124789235A>G
NM_152722.5:c.*1799T>C
NM_001037558.2:c.-412A>G
NM_152722.4:c.*1799T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,919,339 - 124,919,339CLINVAR
GRCh3711124,789,235 - 124,789,235CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: VAN DER KNAAP DISEASE



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11648118
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.