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

Variant : CV263996 (NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)) Homo sapiens

Symbol: CV263996
Name: NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)
Condition: Inborn genetic diseases [RCV000624249]|not provided [RCV000354221]
Clinical Significance: pathogenic
Last Evaluated: 01/11/2018
Review Status: criteria provided, single submitter
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_029777.1:g.219084G>A
NC_000001.11:g.210920032C>T
NC_000001.10:g.211093374C>T
NP_758872.1:p.Arg357Gln
NM_172362.3:c.1070G>A
NM_002238.4:c.989G>A
NG_029777.2:g.219084G>A
NM_172362.2:c.1070G>A
NP_002229.1:p.Arg330Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,920,032 - 210,920,032CLINVAR
GRCh371211,093,374 - 211,093,374CLINVAR
Cytogenetic Map11q32.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11633636
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-10-15
Status: ACTIVE



NHLBI Logo

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