Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV188629 (NM_005477.3(HCN4):c.2657C>T (p.Ala886Val)) Homo sapiens

Symbol: CV188629
Name: NM_005477.3(HCN4):c.2657C>T (p.Ala886Val)
Condition: Brugada syndrome 8 [RCV001085688]|Cardiovascular phenotype [RCV000620478]|Long QT syndrome [RCV000852707]|not provided [RCV000711888]|not specified [RCV000180274]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 12/31/2019
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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.50829C>T
NC_000015.10:g.73323436G>A
NC_000015.9:g.73615777G>A
NP_005468.1:p.Ala886Val
NM_005477.3:c.2657C>T
NM_005477.2:c.2657C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,323,436 - 73,323,436CLINVAR
GRCh371573,615,777 - 73,615,777CLINVAR
Cytogenetic Map1515q24.1CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: adult
Prevalence: 1-5 / 10 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10044628
Created: 2015-06-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.