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Variant : CV403750 (NC_000022.10:g.(?_30035079)_(30035201_?)del) Homo sapiens

Symbol: CV403750
Name: NC_000022.10:g.(?_30035079)_(30035201_?)del
Condition: Neurofibromatosis, type 2 [RCV000458885]
Clinical Significance: likely pathogenic
Last Evaluated: 09/03/2016
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_30035079)_(30035201_?)del
Human AssemblyChrPosition (strand)Source
GRCh382229,639,090 - 29,639,212CLINVAR
GRCh372230,035,079 - 30,035,201CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Age Of Onset: all ages
Prevalence: 1-9 / 100 000

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12882026
Created: 2017-05-09
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.