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Variant : CV471883 (NM_000268.3(NF2):c.273del (p.Val92fs)) Homo sapiens

Symbol: CV471883
Name: NM_000268.3(NF2):c.273del (p.Val92fs)
Condition: Neurofibromatosis, type 2 [RCV000537390]
Clinical Significance: pathogenic
Last Evaluated: 12/14/2017
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NP_000259.1:p.Val92fs
NP_057502.2:p.Val92fs
NP_861966.1:p.Val50fs
NP_861546.1:p.Val92fs
NP_861970.1:p.Val92fs
NP_861971.1:p.Val92fs
NM_181830.3:c.115-3080del
NM_181831.3:c.115-3080del
NM_181828.3:c.147del
NM_181829.3:c.240+2246del
NM_000268.3:c.273del
NM_016418.5:c.273del
NM_181825.3:c.273del
NM_181832.3:c.273del
NM_181833.2:c.273del
NG_009057.1:g.40567del
NC_000022.11:g.29639122del
NC_000022.10:g.30035111del
LRG_511t1:c.273del
LRG_511t2:c.273del
LRG_511:g.40567del
NM_000268.3:c.273delA
NR_156186.1:n.832del
LRG_511p1:p.Val92fs
LRG_511p2:p.Val92fs
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,639,122 - 29,639,122CLINVAR
GRCh372230,035,111 - 30,035,111CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13500566
Created: 2018-01-09
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.