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Variant : CV415447 (NM_005477.3(HCN4):c.2399G>A (p.Arg800His)) Homo sapiens

Symbol: CV415447
Name: NM_005477.3(HCN4):c.2399G>A (p.Arg800His)
Condition: Brugada syndrome 8 [RCV001060460]|Cardiomyopathy [RCV000852709]|not provided [RCV000489092]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 12/12/2019
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.50571G>A
NC_000015.10:g.73323694C>T
NC_000015.9:g.73616035C>T
NP_005468.1:p.Arg800His
NM_005477.3:c.2399G>A
NM_005477.2:c.2399G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,323,694 - 73,323,694CLINVAR
GRCh371573,616,035 - 73,616,035CLINVAR
Cytogenetic Map1515q24.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12906331
Created: 2017-06-06
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.