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Variant : CV224509 (NM_005477.3(HCN4):c.2261A>G (p.His754Arg)) Homo sapiens

Symbol: CV224509
Name: NM_005477.3(HCN4):c.2261A>G (p.His754Arg)
Condition: Arrhythmogenic right ventricular cardiomyopathy [RCV000208176]
Clinical Significance: uncertain significance
Last Evaluated: 02/10/2015
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): NG_009063.1:g.50433A>G
NC_000015.10:g.73323832T>C
NC_000015.9:g.73616173T>C
NP_005468.1:p.His754Arg
NM_005477.3:c.2261A>G
NM_005477.2:c.2261A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,323,832 - 73,323,832CLINVAR
GRCh371573,616,173 - 73,616,173CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: Arrhythmogenic right ventricular dysplasia; Cardiomyopathy, ARVC



Disease Annotations
References - curated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11040328
Created: 2016-03-08
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.