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Variant : CV679469 (NM_005477.3(HCN4):c.1005G>T (p.Met335Ile)) Homo sapiens

Symbol: CV679469
Name: NM_005477.3(HCN4):c.1005G>T (p.Met335Ile)
Condition: Hypertrophic cardiomyopathy [RCV000852711]
Clinical Significance: likely benign
Last Evaluated: 02/07/2018
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): NM_005477.3:c.1005G>T
NG_009063.1:g.30676G>T
NC_000015.10:g.73343589C>A
NC_000015.9:g.73635930C>A
NP_005468.1:p.Met335Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,343,589 - 73,343,589CLINVAR
GRCh371573,635,930 - 73,635,930CLINVAR
Cytogenetic Map1515q24.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15014972
Created: 2019-11-12
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.