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Variant : CV224510 (NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)) Homo sapiens

Symbol: CV224510
Name: NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)
Condition: Brugada syndrome 8 [RCV000697233]|Cardiac arrest [RCV000208061]|not provided [RCV000379734]
Clinical Significance: uncertain significance
Last Evaluated: 10/25/2018
Review Status: 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.50369G>A
NC_000015.10:g.73323896C>T
NC_000015.9:g.73616237C>T
NP_005468.1:p.Val733Ile
NM_005477.3:c.2197G>A
NM_005477.2:c.2197G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,323,896 - 73,323,896CLINVAR
GRCh371573,616,237 - 73,616,237CLINVAR
Cytogenetic Map1515q24.1CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11039947
Created: 2016-03-08
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.