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Variant : CV820429 (NC_000011.9:g.(?_117856768)_(118972385_?)dup) Homo sapiens

Symbol: CV820429
Name: NC_000011.9:g.(?_117856768)_(118972385_?)dup
Condition: Glucose-6-phosphate transport defect [RCV001031254]
Clinical Significance: uncertain significance
Last Evaluated: 12/13/2019
Review Status: criteria provided, single submitter
Related Genes: ARCN1   ATP5MG   BCL9L   CD3D   CD3E   CD3G   CENATAC   CXCR5   DDX6   DPAGT1   FOXR1   H2AX   HMBS   HYOU1   IFT46   IL10RA   JAML   KMT2A   MPZL2   MPZL3   PHLDB1   RPS25   SCN2B   SCN4B   SLC37A4   TMEM25   TMPRSS4   TRAPPC4   TREH   TTC36   UBE4A   UPK2   VPS11  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000011.9:g.(?_117856768)_(118972385_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3711117,856,768 - 118,972,385CLINVAR
Cytogenetic Map1111q23.3CLINVAR
Trait Synonyms: Glycogen storage disease type 1B; GSD Ib

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 26906196
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.