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Variant : CV566337 (NM_012281.3(KCND2):c.1534C>T (p.Pro512Ser)) Homo sapiens

Symbol: CV566337
Name: NM_012281.3(KCND2):c.1534C>T (p.Pro512Ser)
Condition: Early myoclonic encephalopathy [RCV000688681]
Clinical Significance: uncertain significance
Last Evaluated: 04/13/2018
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.477179C>T
NC_000007.14:g.120745846C>T
NC_000007.13:g.120385900C>T
NP_036413.1:p.Pro512Ser
NM_012281.3:c.1534C>T
NM_012281.2:c.1534C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,745,846 - 120,745,846CLINVAR
GRCh377120,385,900 - 120,385,900CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13811297
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-11-05
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.