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Variant : CV867464 (NM_152722.5(HEPACAM):c.*727G>A) Homo sapiens

Symbol: CV867464
Name: NM_152722.5(HEPACAM):c.*727G>A
Condition: Megalencephalic leukoencephalopathy with subcortical cysts [RCV001105123]
Clinical Significance: 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): NM_001037558.2:c.*394C>T
NM_152722.5:c.*727G>A
NG_029603.1:g.21002G>A
NC_000011.10:g.124920411C>T
NC_000011.9:g.124790307C>T
NM_152722.4:c.*727G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,920,411 - 124,920,411CLINVAR
GRCh3711124,790,307 - 124,790,307CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: VAN DER KNAAP DISEASE



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 28903426
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.