Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV649365 (NM_000268.3(NF2):c.1702A>G (p.Arg568Gly)) Homo sapiens

Symbol: CV649365
Name: NM_000268.3(NF2):c.1702A>G (p.Arg568Gly)
Condition: Neurofibromatosis, type 2 [RCV000793791]
Clinical Significance: uncertain significance
Last Evaluated: 08/02/2018
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_511t2:c.1702A>G
NM_181830.3:c.1453A>G
NM_181831.3:c.1453A>G
NM_181828.3:c.1576A>G
LRG_511:g.83011A>G
NG_009057.1:g.83011A>G
NP_861968.1:p.Arg485Gly
NP_861966.1:p.Arg526Gly
NP_861967.1:p.Arg527Gly
NM_000268.3:c.1702A>G
NM_181829.3:c.1579A>G
NM_016418.5:c.1702A>G
NM_181825.3:c.1702A>G
NM_181832.3:c.1702A>G
NM_181833.2:c.448-13186A>G
NC_000022.11:g.29681566A>G
NC_000022.10:g.30077555A>G
NR_156186.1:n.2261A>G
LRG_511p1:p.Arg568Gly
LRG_511p2:p.Arg568Gly
NP_861969.1:p.Arg485Gly
NP_000259.1:p.Arg568Gly
NP_057502.2:p.Arg568Gly
NP_861546.1:p.Arg568Gly
NP_861970.1:p.Arg568Gly
LRG_511t1:c.1702A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,681,566 - 29,681,566CLINVAR
GRCh372230,077,555 - 30,077,555CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14712407
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.