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Variant : CV224512 (NM_005477.3(HCN4):c.559G>A (p.Ala187Thr)) Homo sapiens

Symbol: CV224512
Name: NM_005477.3(HCN4):c.559G>A (p.Ala187Thr)
Condition: Primary dilated cardiomyopathy [RCV000208159]
Clinical Significance: uncertain significance
Last Evaluated: 11/05/2015
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.6553G>A
NC_000015.10:g.73367712C>T
NC_000015.9:g.73660053C>T
NP_005468.1:p.Ala187Thr
NM_005477.2:c.559G>A
NM_005477.3:c.559G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,367,712 - 73,367,712CLINVAR
GRCh371573,660,053 - 73,660,053CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: Congestive cardiomyopathy



Disease Annotations
References - curated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11040322
Created: 2016-03-08
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.