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Variant : CV464434 (NM_178013.4(PRIMA1):c.222C>T (p.Ser74=)) Homo sapiens

Symbol: CV464434
Name: NM_178013.4(PRIMA1):c.222C>T (p.Ser74=)
Condition: Nocturnal frontal lobe epilepsy [RCV000542492]
Clinical Significance: benign
Last Evaluated: 02/27/2019
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): NC_000014.8:g.94245529G>A
NC_000014.9:g.93779183G>A
NG_009069.1:g.14238C>T
NP_821092.1:p.Ser74=
NM_178013.4:c.222C>T
NM_178013.3:c.222C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381493,779,183 - 93,779,183CLINVAR
GRCh371494,245,529 - 94,245,529CLINVAR
Cytogenetic Map1414q32.12CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13464893
Created: 2018-01-09
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.