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Variant : CV440430 (NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser)) Homo sapiens

Symbol: CV440430
Name: NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser)
Condition: Epilepsy, idiopathic generalized 10 [RCV000763778]|not provided [RCV000517771]
Clinical Significance: uncertain significance
Last Evaluated: 11/06/2018
Review Status: criteria provided, single submitter
Related Genes: GABRD  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_008168.1:g.15700G>A
NC_000001.11:g.2030028G>A
NC_000001.10:g.1961467G>A
NP_000806.2:p.Gly369Ser
NM_000815.5:c.1105G>A
NM_000815.4:c.1105G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3812,030,028 - 2,030,028CLINVAR
GRCh3711,961,467 - 1,961,467CLINVAR
Cytogenetic Map11p36.33CLINVAR
Trait Synonyms: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13482107
Created: 2018-01-09
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.