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Variant : CV867462 (NM_152722.5(HEPACAM):c.*1024G>C) Homo sapiens

Symbol: CV867462
Name: NM_152722.5(HEPACAM):c.*1024G>C
Condition: Megalencephalic leukoencephalopathy with subcortical cysts [RCV001103208]
Clinical Significance: uncertain significance
Last Evaluated: 01/13/2018
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): NM_001037558.2:c.*97C>G
NG_029603.1:g.21299G>C
NC_000011.10:g.124920114C>G
NC_000011.9:g.124790010C>G
NM_152722.5:c.*1024G>C
NM_152722.4:c.*1024G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,920,114 - 124,920,114CLINVAR
GRCh3711124,790,010 - 124,790,010CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: VAN DER KNAAP DISEASE



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 28899001
Created: 2020-06-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.