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Variant : CV313077 (NM_152722.5(HEPACAM):c.*1206T>A) Homo sapiens

Symbol: CV313077
Name: NM_152722.5(HEPACAM):c.*1206T>A
Condition: Megalencephalic leukoencephalopathy with subcortical cysts [RCV000340406]
Clinical Significance: benign|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): NG_029603.1:g.21481T>A
NC_000011.10:g.124919932A>T
NC_000011.9:g.124789828A>T
NM_001037558.2:c.182A>T
NM_152722.4:c.*1206T>A
NP_001032647.2:p.His61Leu
NM_152722.5:c.*1206T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,919,932 - 124,919,932CLINVAR
GRCh3711124,789,828 - 124,789,828CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: VAN DER KNAAP DISEASE



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11607176
Created: 2017-01-11
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.