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Variant : CV400817 (NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)) Homo sapiens

Symbol: CV400817
Name: NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)
Condition: Brugada syndrome 8 [RCV000475198]|Cardiomyopathy [RCV000852463]|not provided [RCV000591412]
Clinical Significance: uncertain significance
Last Evaluated: 01/31/2019
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.51476C>T
NC_000015.10:g.73322789G>A
NC_000015.9:g.73615130G>A
NP_005468.1:p.Arg1102Cys
NM_005477.3:c.3304C>T
NM_005477.2:c.3304C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,322,789 - 73,322,789CLINVAR
GRCh371573,615,130 - 73,615,130CLINVAR
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: 12890734
Created: 2017-05-09
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.