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Variant : CV419289 (NM_005477.3(HCN4):c.1928T>G (p.Leu643Arg)) Homo sapiens

Symbol: CV419289
Name: NM_005477.3(HCN4):c.1928T>G (p.Leu643Arg)
Condition: Sudden cardiac death [RCV000497873]
Clinical Significance: uncertain significance
Last Evaluated: 02/09/2017
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.49260T>G
NC_000015.10:g.73325005A>C
NC_000015.9:g.73617346A>C
NP_005468.1:p.Leu643Arg
NM_005477.2:c.1928T>G
NM_005477.3:c.1928T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,325,005 - 73,325,005CLINVAR
GRCh371573,617,346 - 73,617,346CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: Premature sudden cardiac death; Sinus bradycardia; Sudden adult death syndrome



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13211157
Created: 2017-09-12
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.