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Variant : CV551755 (NM_172362.3(KCNH1):c.596A>G (p.Lys199Arg)) Homo sapiens

Symbol: CV551755
Name: NM_172362.3(KCNH1):c.596A>G (p.Lys199Arg)
Condition: KCNH1-related phenotype [RCV000678981]
Clinical Significance: likely pathogenic
Last Evaluated: 06/22/2018
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): NM_002238.4:c.596A>G
NM_172362.3:c.596A>G
NG_029777.1:g.119897A>G
NP_758872.1:p.Lys199Arg
NC_000001.10:g.211192561T>C
NC_000001.11:g.211019219T>C
NG_029777.2:g.119897A>G
NM_172362.2:c.596A>G
NP_002229.1:p.Lys199Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381211,019,219 - 211,019,219CLINVAR
GRCh371211,192,561 - 211,192,561CLINVAR
Cytogenetic Map11q32.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13796255
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-10-08
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.