Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV867460 (NM_152722.5(HEPACAM):c.*1479T>C) Homo sapiens

Symbol: CV867460
Name: NM_152722.5(HEPACAM):c.*1479T>C
Condition: Megalencephalic leukoencephalopathy with subcortical cysts [RCV001108377]
Clinical Significance: likely benign
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_152722.5:c.*1479T>C
NM_001037558.2:c.-92A>G
NG_029603.1:g.21754T>C
NC_000011.10:g.124919659A>G
NC_000011.9:g.124789555A>G
NM_152722.4:c.*1479T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,919,659 - 124,919,659CLINVAR
GRCh3711124,789,555 - 124,789,555CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: VAN DER KNAAP DISEASE



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 28909444
Created: 2020-06-09
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.