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Variant : CV141245 (NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)) Homo sapiens

Symbol: CV141245
Name: NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
Condition: Atrial fibrillation [RCV000852708]|Brugada syndrome 8 [RCV000232306]|Cardiovascular phenotype [RCV000620859]|Left ventricular noncompaction [RCV000577973]|Sick sinus syndrome 2, autosomal dominant [RCV000578029]|not provided [RCV000711887]|not specified [RCV000125353]
Clinical Significance: benign|likely benign
Last Evaluated: 05/28/2019
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: HCN4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|research
HGVS Name(s): NG_009063.1:g.50820C>G
NC_000015.10:g.73323445G>C
NC_000015.9:g.73615786G>C
NP_005468.1:p.Pro883Arg
NM_005477.3:c.2648C>G
NM_005477.2:c.2648C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,323,445 - 73,323,445CLINVAR
GRCh371573,615,786 - 73,615,786CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; Cardiomyopathy; Hypertrophic cardiomyopathy; SICK SINUS SYNDROME 2; SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION; SINUS BRADYCARDIA SYNDROME, FAMILIAL, AUTOSOMAL DOMINANT; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT; Ventricular tachycardia
Age Of Onset: adult
Prevalence: 1-5 / 10 000



References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8691285
Created: 2014-07-08
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.