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Variant : CV189364 (NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys)) Homo sapiens

Symbol: CV189364
Name: NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys)
Condition: Brugada syndrome 8 [RCV000822299]|Ventricular tachycardia [RCV000852466]|not provided [RCV000171646]
Clinical Significance: uncertain significance
Last Evaluated: 09/15/2018
Review Status: classified by single submitter|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.49172G>A
NC_000015.10:g.73325093C>T
NC_000015.9:g.73617434C>T
NP_005468.1:p.Glu614Lys
NM_005477.2:c.1840G>A
NM_005477.3:c.1840G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,325,093 - 73,325,093CLINVAR
GRCh371573,617,434 - 73,617,434CLINVAR
Cytogenetic Map1515q24.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10046173
Created: 2015-07-07
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.