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Variant : CV522091 (NM_012281.3(KCND2):c.1616G>A (p.Arg539His)) Homo sapiens

Symbol: CV522091
Name: NM_012281.3(KCND2):c.1616G>A (p.Arg539His)
Condition: Early myoclonic encephalopathy [RCV000635175]
Clinical Significance: uncertain significance
Last Evaluated: 01/20/2018
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): NG_034230.1:g.477261G>A
NC_000007.14:g.120745928G>A
NC_000007.13:g.120385982G>A
NP_036413.1:p.Arg539His
NM_012281.2:c.1616G>A
NM_012281.3:c.1616G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,745,928 - 120,745,928CLINVAR
GRCh377120,385,982 - 120,385,982CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13618750
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2019-11-12
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.