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Variant : CV583078 (NM_000815.5(GABRD):c.470+1G>C) Homo sapiens

Symbol: CV583078
Name: NM_000815.5(GABRD):c.470+1G>C
Condition: Epilepsy, idiopathic generalized 10 [RCV000723341]
Clinical Significance: uncertain significance
Last Evaluated: 07/11/2018
Review Status: no assertion criteria provided
Related Genes: GABRD  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): NM_000815.5:c.470+1G>C
NG_008168.1:g.11411G>C
NC_000001.10:g.1957178G>C
NC_000001.11:g.2025739G>C
NM_000815.4:c.470+1G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3812,025,739 - 2,025,739CLINVAR
GRCh3711,957,178 - 1,957,178CLINVAR
Cytogenetic Map11p36.33CLINVAR
Trait Synonyms: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13831418
Created: 2019-01-08
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.