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Variant : CV351299 (NM_000268.3(NF2):c.*1264del) Homo sapiens

Symbol: CV351299
Name: NM_000268.3(NF2):c.*1264del
Condition: Neurofibromatosis, type 2 [RCV000284617]
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): NM_016418.5:c.*1324del
NM_181828.3:c.*1324del
NM_181829.3:c.*1324del
NM_181830.3:c.*1324del
NM_181832.3:c.*1339del
NG_009057.1:g.97511del
LRG_511t1:c.*1264del
LRG_511t2:c.*1324del
LRG_511:g.97511del
NM_000268.3:c.*1264del
NM_181833.2:c.*1264del
NC_000022.11:g.29696066del
NC_000022.10:g.30092055del
NR_156186.1:n.3611del
NM_000268.3:c.*1264delC
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,696,066 - 29,696,066CLINVAR
GRCh372230,092,055 - 30,092,055CLINVAR
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: 11648918
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.