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Variant : CV522811 (NM_012281.3(KCND2):c.1668C>T (p.Leu556=)) Homo sapiens

Symbol: CV522811
Name: NM_012281.3(KCND2):c.1668C>T (p.Leu556=)
Condition: Early myoclonic encephalopathy [RCV000635179]
Clinical Significance: likely benign
Last Evaluated: 12/18/2017
Review Status: criteria provided, single submitter
Related Genes: KCND2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_034230.1:g.477313C>T
NC_000007.14:g.120745980C>T
NC_000007.13:g.120386034C>T
NP_036413.1:p.Leu556=
NM_012281.3:c.1668C>T
NM_012281.2:c.1668C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,745,980 - 120,745,980CLINVAR
GRCh377120,386,034 - 120,386,034CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13618799
Created: 2018-06-12
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.