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Variant : CV649341 (NM_000268.3(NF2):c.479G>A (p.Arg160Gln)) Homo sapiens

Symbol: CV649341
Name: NM_000268.3(NF2):c.479G>A (p.Arg160Gln)
Condition: Neurofibromatosis, type 2 [RCV000813561]
Clinical Significance: uncertain significance
Last Evaluated: 08/31/2018
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): NM_000268.3:c.479G>A
LRG_511t1:c.479G>A
LRG_511t2:c.479G>A
NM_181830.3:c.230G>A
NM_181831.3:c.230G>A
NM_181828.3:c.353G>A
NM_181829.3:c.356G>A
NM_181833.2:c.447+12403G>A
NM_016418.5:c.479G>A
NM_181825.3:c.479G>A
NM_181832.3:c.479G>A
LRG_511:g.56133G>A
NG_009057.1:g.56133G>A
NC_000022.11:g.29654688G>A
NC_000022.10:g.30050677G>A
NR_156186.1:n.1038G>A
LRG_511p1:p.Arg160Gln
LRG_511p2:p.Arg160Gln
NP_861966.1:p.Arg118Gln
NP_861967.1:p.Arg119Gln
NP_000259.1:p.Arg160Gln
NP_057502.2:p.Arg160Gln
NP_861546.1:p.Arg160Gln
NP_861970.1:p.Arg160Gln
NP_861968.1:p.Arg77Gln
NP_861969.1:p.Arg77Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,654,688 - 29,654,688CLINVAR
GRCh372230,050,677 - 30,050,677CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14721631
Created: 2019-09-06
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.