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

Variant : CV313075 (NM_152722.5(HEPACAM):c.*1794_*1797GTTT[3]) Homo sapiens

Symbol: CV313075
Name: NM_152722.5(HEPACAM):c.*1794_*1797GTTT[3]
Condition: Megalencephalic leukoencephalopathy with subcortical cysts [RCV000386525]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: HEPACAM   HEPN1  
Variant Type: microsatellite (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_152722.5:c.*1794_*1797GTTT[3]
NM_001037558.2:c.-414_-411AAAC[3]
NG_029603.1:g.22069_22072GTTT[3]
NC_000011.10:g.124919337_124919340AAAC[3]
NC_000011.9:g.124789233_124789236AAAC[3]
NM_152722.4:c.*1798_*1801dupGTTT
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,919,336 - 124,919,337CLINVAR
GRCh3711124,789,232 - 124,789,233CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: VAN DER KNAAP DISEASE




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11635704
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

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