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Variant : CV465144 (NM_005477.3(HCN4):c.3262G>A (p.Ala1088Thr)) Homo sapiens

Symbol: CV465144
Name: NM_005477.3(HCN4):c.3262G>A (p.Ala1088Thr)
Condition: Brugada syndrome 8 [RCV000536030]|Cardiomyopathy [RCV000852464]
Clinical Significance: uncertain significance
Last Evaluated: 01/22/2019
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.51434G>A
NC_000015.10:g.73322831C>T
NC_000015.9:g.73615172C>T
NP_005468.1:p.Ala1088Thr
NM_005477.3:c.3262G>A
NM_005477.2:c.3262G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,322,831 - 73,322,831CLINVAR
GRCh371573,615,172 - 73,615,172CLINVAR
Cytogenetic Map1515q24.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13493945
Created: 2018-01-09
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.