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Variant : CV442707 (NM_172362.3(KCNH1):c.1465C>T (p.Leu489Phe)) Homo sapiens

Symbol: CV442707
Name: NM_172362.3(KCNH1):c.1465C>T (p.Leu489Phe)
Condition: not provided [RCV000519568]
Clinical Significance: pathogenic
Last Evaluated: 08/22/2017
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_172362.3:c.1465C>T
NG_029777.2:g.334952C>T
NM_172362.2:c.1465C>T
NG_029777.1:g.334952C>T
NC_000001.11:g.210804164G>A
NC_000001.10:g.210977506G>A
NP_758872.1:p.Leu489Phe
NP_002229.1:p.Leu462Phe
NM_002238.4:c.1384C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,804,164 - 210,804,164CLINVAR
GRCh371210,977,506 - 210,977,506CLINVAR
Cytogenetic Map11q32.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13474162
Created: 2018-01-09
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.