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Variant : CV528857 (NM_178013.4(PRIMA1):c.378C>T (p.Asp126=)) Homo sapiens

Symbol: CV528857
Name: NM_178013.4(PRIMA1):c.378C>T (p.Asp126=)
Condition: Nocturnal frontal lobe epilepsy [RCV000653470]
Clinical Significance: likely benign
Last Evaluated: 10/18/2018
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): NM_178013.4:c.378C>T
NG_009069.1:g.71893C>T
NC_000014.9:g.93721528G>A
NC_000014.8:g.94187874G>A
NP_821092.1:p.Asp126=
NM_178013.3:c.378C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381493,721,528 - 93,721,528CLINVAR
GRCh371494,187,874 - 94,187,874CLINVAR
Cytogenetic Map1414q32.12CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13625448
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-01-14
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.