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Variant : CV319149 (NM_152722.5(HEPACAM):c.*943G>A) Homo sapiens

Symbol: CV319149
Name: NM_152722.5(HEPACAM):c.*943G>A
Condition: Megalencephalic leukoencephalopathy with subcortical cysts [RCV000362809]
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.21218G>A
NC_000011.10:g.124920195C>T
NC_000011.9:g.124790091C>T
NM_001037558.2:c.*178C>T
NM_152722.5:c.*943G>A
NM_152722.4:c.*943G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,920,195 - 124,920,195CLINVAR
GRCh3711124,790,091 - 124,790,091CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: VAN DER KNAAP DISEASE



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11659943
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.