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Variant : CV677255 (NM_005477.3(HCN4):c.2266G>A (p.Ala756Thr)) Homo sapiens

Symbol: CV677255
Name: NM_005477.3(HCN4):c.2266G>A (p.Ala756Thr)
Condition: Arrhythmia [RCV000850278]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: 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): NC_000015.9:g.73616168C>T
NP_005468.1:p.Ala756Thr
NC_000015.10:g.73323827C>T
NM_005477.3:c.2266G>A
NG_009063.1:g.50438G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,323,827 - 73,323,827CLINVAR
GRCh371573,616,168 - 73,616,168CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: Abnormal electrocardiogram; Abnormal heart rate; Abnormality of cardiac conduction; Arrhythmias; Cardiac arrhythmias; Cardiac conduction defects; Cardiac rhythm disturbances; ECG abnormality; Ekg abnormalities; EKG abnormality; Electrocardiographic changes; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14978068
Created: 2019-10-08
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.