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Variant : CV580262 (NM_018129.4(PNPO):c.626A>G (p.Tyr209Cys)) Homo sapiens

Symbol: CV580262
Name: NM_018129.4(PNPO):c.626A>G (p.Tyr209Cys)
Condition: Seizures [RCV000716229]
Clinical Significance: uncertain significance
Last Evaluated: 06/13/2016
Review Status: criteria provided, single submitter
Related Genes: PNPO  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_008744.1:g.10100A>G
NC_000017.11:g.47946622A>G
NC_000017.10:g.46023988A>G
NP_060599.1:p.Tyr209Cys
NM_018129.4:c.626A>G
NM_018129.3:c.626A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381747,946,622 - 47,946,622CLINVAR
GRCh371746,023,988 - 46,023,988CLINVAR
Cytogenetic Map1717q21.32CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13828528
Created: 2018-12-06
Species: Homo sapiens
Last Modified: 2020-09-08
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.