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Variant : CV406687 (NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)) Homo sapiens

Symbol: CV406687
Name: NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)
Condition: Epileptic encephalopathy, early infantile, 19 [RCV000824853]|Marfanoid habitus and intellectual disability [RCV000850482]|not provided [RCV000484562]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 12/03/2018
Review Status: criteria provided, single submitter
Related Genes: GABRA1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|research
HGVS Name(s): NM_000806.5:c.1207G>C
NG_011548.1:g.55068G>C
NC_000005.10:g.161897258G>C
NC_000005.9:g.161324264G>C
NP_000797.2:p.Glu403Gln
NM_001127643.2:c.1207G>C
NM_001127644.2:c.1207G>C
NP_001121115.1:p.Glu403Gln
NP_001121117.1:p.Glu403Gln
NP_001121120.1:p.Glu403Gln
NM_001127648.2:c.1207G>C
NM_001127645.2:c.1207G>C
NP_001121116.1:p.Glu403Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh385161,897,258 - 161,897,258CLINVAR
GRCh375161,324,264 - 161,324,264CLINVAR
Cytogenetic Map55q34CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12901395
Created: 2017-05-09
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.