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Variant : CV400363 (NM_005477.3(HCN4):c.1243G>A (p.Val415Met)) Homo sapiens

Symbol: CV400363
Name: NM_005477.3(HCN4):c.1243G>A (p.Val415Met)
Condition: Brugada syndrome 8 [RCV000474325]|Congestive heart failure [RCV000852710]
Clinical Significance: benign
Last Evaluated: 04/09/2019
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.42006G>A
NC_000015.10:g.73332259C>T
NC_000015.9:g.73624600C>T
NP_005468.1:p.Val415Met
NM_005477.3:c.1243G>A
NM_005477.2:c.1243G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,332,259 - 73,332,259CLINVAR
GRCh371573,624,600 - 73,624,600CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure
Age Of Onset: adult
Prevalence: 1-5 / 10 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12890275
Created: 2017-05-09
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.