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Variant : CV20216 (NM_005477.3(HCN4):c.1209+2_1209+3insGTGA) Homo sapiens

Symbol: CV20216
Name: NM_005477.3(HCN4):c.1209+2_1209+3insGTGA
Condition: Brugada syndrome 8 [RCV000005485]|Ventricular tachycardia [RCV000171564]
Clinical Significance: pathogenic|likely pathogenic|uncertain significance
Last Evaluated: 04/05/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: HCN4  
Variant Type: insertion (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: literature only|research
HGVS Name(s): NC_000015.10:g.73343384_73343385insTCAC
NC_000015.9:g.73635725_73635726insTCAC
NG_009063.1:g.30882_30883insGAGT
NM_005477.3:c.1209+2_1209+3insGTGA
NM_005477.2:c.1209_1209+1insGTGA
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,343,382 - 73,343,383CLINVAR
GRCh371573,635,723 - 73,635,724CLINVAR
Build 361571,422,778 - 71,422,779CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Age Of Onset: adulthood
Prevalence: 1-5 / 10 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8558516
Created: 2014-05-13
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.