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Variant : CV621937 (NM_172362.3(KCNH1):c.881C>T (p.Thr294Met)) Homo sapiens

Symbol: CV621937
Name: NM_172362.3(KCNH1):c.881C>T (p.Thr294Met)
Condition: not provided [RCV000782069]
Clinical Significance: likely pathogenic
Last Evaluated: 12/05/2018
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.881C>T
NG_029777.1:g.120182C>T
NP_002229.1:p.Thr294Met
NC_000001.10:g.211192276G>A
NM_172362.2:c.881C>T
NP_758872.1:p.Thr294Met
NM_172362.3:c.881C>T
NG_029777.2:g.120182C>T
NC_000001.11:g.211018934G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381211,018,934 - 211,018,934CLINVAR
GRCh371211,192,276 - 211,192,276CLINVAR
Cytogenetic Map11q32.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14691337
Created: 2019-06-11
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.