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Variant : CV573219 (NC_000022.10:g.(?_30090731)_(30090801_?)dup) Homo sapiens

Symbol: CV573219
Name: NC_000022.10:g.(?_30090731)_(30090801_?)dup
Condition: Neurofibromatosis, type 2 [RCV000708021]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_30090731)_(30090801_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382229,694,742 - 29,694,812CLINVAR
GRCh372230,090,731 - 30,090,801CLINVAR
Cytogenetic Map2222q12.2CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13818927
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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