Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV528332 (NM_178013.4(PRIMA1):c.164G>A (p.Arg55Gln)) Homo sapiens

Symbol: CV528332
Name: NM_178013.4(PRIMA1):c.164G>A (p.Arg55Gln)
Condition: Nocturnal frontal lobe epilepsy [RCV000653468]
Clinical Significance: uncertain significance
Last Evaluated: 08/16/2017
Review Status: criteria provided, single submitter
Related Genes: PRIMA1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_009069.1:g.14180G>A
NC_000014.9:g.93779241C>T
NC_000014.8:g.94245587C>T
NP_821092.1:p.Arg55Gln
NM_178013.4:c.164G>A
NM_178013.3:c.164G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381493,779,241 - 93,779,241CLINVAR
GRCh371494,245,587 - 94,245,587CLINVAR
Cytogenetic Map1414q32.12CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13625446
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.