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Variant : CV178709 (NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)) Homo sapiens

Symbol: CV178709
Name: NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
Condition: Brugada syndrome 8 [RCV001082507]|Brugada syndrome [RCV000157245]|Cardiomyopathy [RCV000852712]|Cardiovascular phenotype [RCV000618430]|Sick sinus syndrome 2, autosomal dominant [RCV001117433]|not provided [RCV000723946]|not specified [RCV000255885]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/31/2019
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: HCN4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_005477.2:c.458A>G
NG_009063.1:g.6452A>G
NC_000015.10:g.73367813T>C
NC_000015.9:g.73660154T>C
NP_005468.1:p.Glu153Gly
NM_005477.3:c.458A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,367,813 - 73,367,813CLINVAR
GRCh371573,660,154 - 73,660,154CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; Dilated 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; Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Age Of Onset: adult
Prevalence: 1-5 / 10 000



References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9832373
Created: 2015-03-10
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.