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Variant : CV351319 (NM_000268.3(NF2):c.*2007del) Homo sapiens

Symbol: CV351319
Name: NM_000268.3(NF2):c.*2007del
Condition: Neurofibromatosis, type 2 [RCV000312724]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_511t1:c.*2007del
LRG_511t2:c.*2067del
LRG_511:g.98254del
NM_000268.3:c.*2007del
NM_016418.5:c.*2067del
NM_181829.3:c.*2067del
NM_181830.3:c.*2067del
NM_181832.3:c.*2082del
NG_009057.1:g.98254del
NC_000022.11:g.29696809del
NM_181833.2:c.*2007del
NM_181828.3:c.*2067del
NC_000022.10:g.30092798del
NR_156186.1:n.4354del
NM_000268.3:c.*2007delT
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,696,809 - 29,696,809CLINVAR
GRCh372230,092,798 - 30,092,798CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Age Of Onset: all ages
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11653688
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.