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Variant : CV313084 (NM_152722.5(HEPACAM):c.*472T>G) Homo sapiens

Symbol: CV313084
Name: NM_152722.5(HEPACAM):c.*472T>G
Condition: Megalencephalic leukoencephalopathy with subcortical cysts [RCV000370888]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 01/12/2018
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.20747T>G
NC_000011.10:g.124920666A>C
NC_000011.9:g.124790562A>C
NM_001037558.2:c.*649A>C
NM_152722.4:c.*472T>G
NM_152722.5:c.*472T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,920,666 - 124,920,666CLINVAR
GRCh3711124,790,562 - 124,790,562CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: VAN DER KNAAP DISEASE



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11609619
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.