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Variant : CV537114 (NM_172362.3(KCNH1):c.1088_1094del (p.Arg363fs)) Homo sapiens

Symbol: CV537114
Name: NM_172362.3(KCNH1):c.1088_1094del (p.Arg363fs)
Condition: not provided [RCV000658545]
Clinical Significance: uncertain significance
Last Evaluated: 02/28/2018
Review Status: criteria provided, single submitter
Related Genes: KCNH1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_002238.4:c.1007_1013del
NC_000001.11:g.210920011_210920017del
NC_000001.10:g.211093353_211093359del
NP_002229.1:p.Arg336fs
NP_758872.1:p.Arg363fs
NG_029777.1:g.219102_219108del
NG_029777.2:g.219102_219108del
NM_172362.3:c.1088_1094del
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,920,008 - 210,920,014CLINVAR
GRCh371211,093,350 - 211,093,356CLINVAR
Cytogenetic Map11q32.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13705977
Created: 2018-08-07
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.