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Variant : CV188642 (NM_005477.3(HCN4):c.520C>T (p.Pro174Ser)) Homo sapiens

Symbol: CV188642
Name: NM_005477.3(HCN4):c.520C>T (p.Pro174Ser)
Condition: Brugada syndrome 8 [RCV000467858]|Hypertrophic cardiomyopathy [RCV000497368]|not provided [RCV000170946]
Clinical Significance: uncertain significance
Last Evaluated: 11/19/2018
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
HGVS Name(s): NG_009063.1:g.6514C>T
NC_000015.10:g.73367751G>A
NC_000015.9:g.73660092G>A
NP_005468.1:p.Pro174Ser
p.(Pro174Ser)
NM_005477.2:c.520C>T
NM_005477.3:c.520C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,367,751 - 73,367,751CLINVAR
GRCh371573,660,092 - 73,660,092CLINVAR
Cytogenetic Map1515q24.1CLINVAR
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: 10044636
Created: 2015-06-09
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.