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Variant : CV188633 (NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)) Homo sapiens

Symbol: CV188633
Name: NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
Condition: Brugada syndrome 8 [RCV001084342]|Cardiovascular phenotype [RCV000617204]|Sick sinus syndrome 2, autosomal dominant [RCV001120898]|Sudden cardiac death [RCV000204998]|not provided [RCV000170931]|not specified [RCV000185511]
Clinical Significance: likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 12/31/2019
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, conflicting interpretations|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.50447G>A
NC_000015.10:g.73323818C>T
NC_000015.9:g.73616159C>T
NP_005468.1:p.Val759Ile
NM_005477.3:c.2275G>A
NM_005477.2:c.2275G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,323,818 - 73,323,818CLINVAR
GRCh371573,616,159 - 73,616,159CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; Premature sudden cardiac death; 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; Sudden adult death syndrome
Age Of Onset: adult
Prevalence: 1-5 / 10 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10044627
Created: 2015-06-09
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.