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Variant : CV256231 (NM_018129.4(PNPO):c.139-4C>G) Homo sapiens

Symbol: CV256231
Name: NM_018129.4(PNPO):c.139-4C>G
Condition: Seizures [RCV000720217]|not specified [RCV000251975]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 06/30/2016
Review Status: criteria provided, single submitter
Related Genes: PNPO  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_018129.4:c.139-4C>G
NG_008744.1:g.6780C>G
NC_000017.11:g.47943302C>G
NC_000017.10:g.46020668C>G
NM_018129.3:c.139-4C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381747,943,302 - 47,943,302CLINVAR
GRCh371746,020,668 - 46,020,668CLINVAR
Cytogenetic Map1717q21.32CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11550603
Created: 2016-10-11
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.