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Variant : CV561244 (NM_012281.3(KCND2):c.31T>C (p.Phe11Leu)) Homo sapiens

Symbol: CV561244
Name: NM_012281.3(KCND2):c.31T>C (p.Phe11Leu)
Condition: Early myoclonic encephalopathy [RCV000690637]
Clinical Significance: uncertain significance
Last Evaluated: 04/25/2018
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.31T>C
NG_034230.1:g.5996T>C
NC_000007.14:g.120274663T>C
NC_000007.13:g.119914717T>C
NP_036413.1:p.Phe11Leu
NM_012281.2:c.31T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,274,663 - 120,274,663CLINVAR
GRCh377119,914,717 - 119,914,717CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13814110
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.