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Variant : CV511215 (NM_172362.3(KCNH1):c.1705G>A (p.Val569Met)) Homo sapiens

Symbol: CV511215
Name: NM_172362.3(KCNH1):c.1705G>A (p.Val569Met)
Condition: Inborn genetic diseases [RCV000622799]
Clinical Significance: likely pathogenic
Last Evaluated: 04/27/2015
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.1624G>A
NG_029777.1:g.341398G>A
NC_000001.11:g.210797718C>T
NC_000001.10:g.210971060C>T
NP_758872.1:p.Val569Met
NM_172362.3:c.1705G>A
NG_029777.2:g.341398G>A
NM_172362.2:c.1705G>A
NP_002229.1:p.Val542Met
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,797,718 - 210,797,718CLINVAR
GRCh371210,971,060 - 210,971,060CLINVAR
Cytogenetic Map11q32.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13530812
Created: 2018-05-08
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.