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Variant : CV275371 (NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)) Homo sapiens

Symbol: CV275371
Name: NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)
Condition: Brugada syndrome 8 [RCV001086425]|Cardiomyopathy [RCV000852706]|not provided [RCV000726615]|not specified [RCV000272546]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/31/2019
Review Status: criteria provided, conflicting interpretations|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.51182C>T
NC_000015.10:g.73323083G>A
NC_000015.9:g.73615424G>A
NP_005468.1:p.Pro1004Ser
NM_005477.3:c.3010C>T
NM_005477.2:c.3010C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,323,083 - 73,323,083CLINVAR
GRCh371573,615,424 - 73,615,424CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: adult
Prevalence: 1-5 / 10 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11636655
Created: 2017-01-11
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.