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Variant : CV538257 (NM_000268.3(NF2):c.1447-2del) Homo sapiens

Symbol: CV538257
Name: NM_000268.3(NF2):c.1447-2del
Condition: Neurofibromatosis, type 2 [RCV000660134]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2016
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_181828.3:c.1321-2del
NM_181829.3:c.1324-2del
NM_181825.3:c.1447-2del
NM_181832.3:c.1447-2del
LRG_511t2:c.1447-2del
NG_009057.1:g.79639del
NC_000022.10:g.30074183del
LRG_511t1:c.1447-2del
NC_000022.11:g.29678194del
NM_000268.3:c.1447-2del
NM_016418.5:c.1447-2del
NM_181833.2:c.448-16558del
LRG_511:g.79639del
NM_181830.3:c.1198-2del
NM_181831.3:c.1198-2del
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,678,194 - 29,678,194CLINVAR
GRCh372230,074,183 - 30,074,183CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13704435
Created: 2018-08-07
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.