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Variant : CV447685 (NM_000815.5(GABRD):c.1107C>A (p.Gly369=)) Homo sapiens

Symbol: CV447685
Name: NM_000815.5(GABRD):c.1107C>A (p.Gly369=)
Condition: Epilepsy, idiopathic generalized 10 [RCV000599811]|Idiopathic generalized epilepsy [RCV000541195]
Clinical Significance: benign|likely benign
Last Evaluated: 02/01/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: GABRD  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_008168.1:g.15702C>A
NC_000001.11:g.2030030C>A
NC_000001.10:g.1961469C>A
NP_000806.2:p.Gly369=
NM_000815.5:c.1107C>A
NM_000815.4:c.1107C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3812,030,030 - 2,030,030CLINVAR
GRCh3711,961,469 - 1,961,469CLINVAR
Cytogenetic Map11p36.33CLINVAR
Trait Synonyms: EIG; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13501692
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.