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Variant : CV237069 (NM_172362.3(KCNH1):c.1136T>C (p.Leu379Pro)) Homo sapiens

Symbol: CV237069
Name: NM_172362.3(KCNH1):c.1136T>C (p.Leu379Pro)
Condition: not provided [RCV000224297]
Clinical Significance: likely pathogenic
Last Evaluated: 02/23/2015
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): NG_029777.1:g.219150T>C
NC_000001.11:g.210919966A>G
NC_000001.10:g.211093308A>G
NP_758872.1:p.Leu379Pro
NM_002238.4:c.1055T>C
NM_172362.3:c.1136T>C
NG_029777.2:g.219150T>C
NP_002229.1:p.Leu352Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,919,966 - 210,919,966CLINVAR
GRCh371211,093,308 - 211,093,308 (+)CLINVAR
Cytogenetic Map11q32.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11350730
Created: 2016-07-12
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.