Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV635573 (NM_012281.3(KCND2):c.1411G>C (p.Gly471Arg)) Homo sapiens

Symbol: CV635573
Name: NM_012281.3(KCND2):c.1411G>C (p.Gly471Arg)
Condition: Early myoclonic encephalopathy [RCV000793240]
Clinical Significance: uncertain significance
Last Evaluated: 08/05/2018
Review Status: criteria provided, single submitter
Related Genes: KCND2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_012281.3:c.1411G>C
NG_034230.1:g.473879G>C
NC_000007.14:g.120742546G>C
NC_000007.13:g.120382600G>C
NM_012281.2:c.1411G>C
NP_036413.1:p.Gly471Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,742,546 - 120,742,546CLINVAR
GRCh377120,382,600 - 120,382,600CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14710801
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.