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Variant : CV224511 (NM_005477.3(HCN4):c.1732C>T (p.Arg578Trp)) Homo sapiens

Symbol: CV224511
Name: NM_005477.3(HCN4):c.1732C>T (p.Arg578Trp)
Condition: Ventricular tachycardia [RCV000208348]
Clinical Significance: uncertain significance
Last Evaluated: 10/13/2015
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): NM_005477.3:c.1732C>T
NM_005477.2:c.1732C>T
NG_009063.1:g.48962C>T
NC_000015.10:g.73325303G>A
NC_000015.9:g.73617644G>A
NP_005468.1:p.Arg578Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,325,303 - 73,325,303CLINVAR
GRCh371573,617,644 - 73,617,644CLINVAR
Cytogenetic Map1515q24.1CLINVAR



Disease Annotations
References - curated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11040097
Created: 2016-03-08
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.