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Variant : CV242115 (NM_005477.3(HCN4):c.724C>T (p.Arg242Cys)) Homo sapiens

Symbol: CV242115
Name: NM_005477.3(HCN4):c.724C>T (p.Arg242Cys)
Condition: Brugada syndrome 8 [RCV000227069]|Hypertrophic cardiomyopathy [RCV000497998]
Clinical Significance: uncertain significance
Last Evaluated: 04/30/2017
Review Status: criteria provided, single submitter
Related Genes: HCN4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_009063.1:g.6718C>T
NC_000015.10:g.73367547G>A
NC_000015.9:g.73659888G>A
NP_005468.1:p.Arg242Cys
p.(Arg242Cys)
NM_005477.2:c.724C>T
NM_005477.3:c.724C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,367,547 - 73,367,547CLINVAR
GRCh371573,659,888 - 73,659,888CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Age Of Onset: adult
Prevalence: 1-5 / 10 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11346020
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2020-08-04
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.