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Variant : CV512152 (NM_005477.3(HCN4):c.2500_2501insG (p.Pro834fs)) Homo sapiens

Symbol: CV512152
Name: NM_005477.3(HCN4):c.2500_2501insG (p.Pro834fs)
Condition: Inborn genetic diseases [RCV000623481]
Clinical Significance: uncertain significance
Last Evaluated: 08/22/2016
Review Status: criteria provided, single submitter
Related Genes: HCN4  
Variant Type: insertion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NG_009063.1:g.50672_50673insG
NC_000015.10:g.73323592_73323593insC
NC_000015.9:g.73615933_73615934insC
NM_005477.3:c.2500_2501insG
NM_005477.2:c.2500_2501insG
NP_005468.1:p.Pro834fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,323,592 - 73,323,593CLINVAR
GRCh371573,615,933 - 73,615,934CLINVAR
Cytogenetic Map1515q24.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13531607
Created: 2018-05-08
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.