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Variant : CV821354 (NC_000021.8:g.(?_43792871)_(46330697_?)dup) Homo sapiens

Symbol: CV821354
Name: NC_000021.8:g.(?_43792871)_(46330697_?)dup
Condition: not provided [RCV001031286]
Clinical Significance: uncertain significance
Last Evaluated: 01/06/2020
Review Status: criteria provided, single submitter
Related Genes: AGPAT3   AIRE   CBS   CFAP410   CRYAA   CSTB   DNMT3L   GATD3A   HSF2BP   ICOSLG   ITGB2   KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LRRC3   NDUFV3   PDE9A   PDXK   PFKL   PKNOX1   PTTG1IP   PWP2   RRP1   RRP1B   RSPH1   SIK1   SLC37A1   SUMO3   TMPRSS3   TRAPPC10   TRPM2   TSPEAR   U2AF1   UBASH3A   UBE2G2   WDR4  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000021.8:g.(?_43792871)_(46330697_?)dup
Human AssemblyChrPosition (strand)Source
GRCh372143,792,871 - 46,330,697CLINVAR
Cytogenetic Map2121q22.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 26887324
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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