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Variant : CV141246 (NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)) Homo sapiens

Symbol: CV141246
Name: NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
Condition: Brugada syndrome 8 [RCV000232104]|Cardiomyopathy [RCV000852705]|Cardiovascular phenotype [RCV000618938]|Sick sinus syndrome 2, autosomal dominant [RCV001117320]|not specified [RCV000153351]
Clinical Significance: benign
Last Evaluated: 01/12/2018
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
HGVS Name(s): NG_009063.1:g.51509A>G
NC_000015.10:g.73322756T>C
NC_000015.9:g.73615097T>C
NM_005477.3:c.3337A>G
NM_005477.2:c.3337A>G
NP_005468.1:p.Met1113Val
NP_005468.1:p.Met1113Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,322,756 - 73,322,756CLINVAR
GRCh371573,615,097 - 73,615,097CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; 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
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: 8691286
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.