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Variant : CV522803 (NM_012281.3(KCND2):c.1441C>T (p.Leu481=)) Homo sapiens

Symbol: CV522803
Name: NM_012281.3(KCND2):c.1441C>T (p.Leu481=)
Condition: Early myoclonic encephalopathy [RCV000635189]
Clinical Significance: likely benign
Last Evaluated: 12/22/2017
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): NM_012281.3:c.1441C>T
NM_012281.2:c.1441C>T
NG_034230.1:g.473909C>T
NC_000007.14:g.120742576C>T
NC_000007.13:g.120382630C>T
NP_036413.1:p.Leu481=
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,742,576 - 120,742,576CLINVAR
GRCh377120,382,630 - 120,382,630CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13618852
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.