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Variant : CV31252 (NM_000815.5(GABRD):c.659G>A (p.Arg220His)) Homo sapiens

Symbol: CV31252
Name: NM_000815.5(GABRD):c.659G>A (p.Arg220His)
Condition: Epilepsy, idiopathic generalized 10 [RCV000022558]|Epilepsy, juvenile myoclonic 7 [RCV000017600]|Generalized epilepsy with febrile seizures plus type 5 [RCV000017599]|Idiopathic generalized epilepsy [RCV000535201]|not provided [RCV000711732]
Clinical Significance: risk factor|benign|likely benign
Last Evaluated: 06/29/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: GABRD  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NG_008168.1:g.13932G>A
NC_000001.11:g.2028260G>A
NC_000001.10:g.1959699G>A
NP_000806.2:p.Arg220His
O14764:p.Arg220His
NM_000815.5:c.659G>A
NM_000815.4:c.659G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3812,028,260 - 2,028,260CLINVAR
GRCh3711,959,699 - 1,959,699CLINVAR
Cytogenetic Map11p36.33CLINVAR
Trait Synonyms: EIG; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8600113
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.