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Variant : CV534180 (NM_000268.3(NF2):c.683A>G (p.Lys228Arg)) Homo sapiens

Symbol: CV534180
Name: NM_000268.3(NF2):c.683A>G (p.Lys228Arg)
Condition: Neurofibromatosis, type 2 [RCV000632636]
Clinical Significance: uncertain significance
Last Evaluated: 12/29/2017
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_511t1:c.683A>G
LRG_511t2:c.683A>G
NM_181833.2:c.447+18927A>G
NM_016418.5:c.683A>G
LRG_511:g.62657A>G
NG_009057.1:g.62657A>G
NC_000022.11:g.29661212A>G
NC_000022.10:g.30057201A>G
LRG_511p1:p.Lys228Arg
LRG_511p2:p.Lys228Arg
NP_000259.1:p.Lys228Arg
NP_057502.2:p.Lys228Arg
NM_181831.3:c.434A>G
NM_181829.3:c.560A>G
NP_861968.1:p.Lys145Arg
NP_861967.1:p.Lys187Arg
NP_861546.1:p.Lys228Arg
NP_861970.1:p.Lys228Arg
NM_181830.3:c.434A>G
NM_181828.3:c.557A>G
NM_181825.3:c.683A>G
NM_181832.3:c.683A>G
NR_156186.1:n.1242A>G
NP_861969.1:p.Lys145Arg
NP_861966.1:p.Lys186Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,661,212 - 29,661,212CLINVAR
GRCh372230,057,201 - 30,057,201CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13615252
Created: 2018-06-12
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.