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Variant : CV488137 (NM_005477.3(HCN4):c.1725G>C (p.Glu575Asp)) Homo sapiens

Symbol: CV488137
Name: NM_005477.3(HCN4):c.1725G>C (p.Glu575Asp)
Condition: Brugada syndrome [RCV000590926]
Clinical Significance: uncertain significance
Last Evaluated: 10/01/2016
Review Status: criteria provided, single submitter
Related Genes: HCN4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_005477.3:c.1725G>C
NM_005477.2:c.1725G>C
NG_009063.1:g.48955G>C
NC_000015.10:g.73325310C>G
NC_000015.9:g.73617651C>G
NP_005468.1:p.Glu575Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,325,310 - 73,325,310CLINVAR
GRCh371573,617,651 - 73,617,651CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13521874
Created: 2018-04-10
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.