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

Variant : CV464567 (NM_178013.4(PRIMA1):c.402G>A (p.Glu134=)) Homo sapiens

Symbol: CV464567
Name: NM_178013.4(PRIMA1):c.402G>A (p.Glu134=)
Condition: Nocturnal frontal lobe epilepsy [RCV000555225]
Clinical Significance: benign
Last Evaluated: 02/20/2019
Review Status: criteria provided, single submitter
Related Genes: PRIMA1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_009069.1:g.71917G>A
NC_000014.9:g.93721504C>T
NC_000014.8:g.94187850C>T
NP_821092.1:p.Glu134=
NM_178013.4:c.402G>A
NM_178013.3:c.402G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381493,721,504 - 93,721,504CLINVAR
GRCh371494,187,850 - 94,187,850CLINVAR
Cytogenetic Map1414q32.12CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13489213
Created: 2018-01-09
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.