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Variant : CV575247 (NM_000268.3(NF2):c.872G>A (p.Arg291His)) Homo sapiens

Symbol: CV575247
Name: NM_000268.3(NF2):c.872G>A (p.Arg291His)
Condition: Neurofibromatosis, type 2 [RCV000689082]
Clinical Significance: uncertain significance
Last Evaluated: 05/13/2018
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_181831.3:c.623G>A
NM_181828.3:c.746G>A
LRG_511t1:c.872G>A
LRG_511t2:c.872G>A
NM_181833.2:c.447+22766G>A
NM_016418.5:c.872G>A
LRG_511:g.66496G>A
NG_009057.1:g.66496G>A
NC_000022.11:g.29665051G>A
NC_000022.10:g.30061040G>A
LRG_511p1:p.Arg291His
LRG_511p2:p.Arg291His
NP_000259.1:p.Arg291His
NP_057502.2:p.Arg291His
NM_181830.3:c.623G>A
NM_181829.3:c.749G>A
NM_181825.3:c.872G>A
NM_181832.3:c.872G>A
NR_156186.1:n.1431G>A
NP_861968.1:p.Arg208His
NP_861969.1:p.Arg208His
NP_861966.1:p.Arg249His
NP_861967.1:p.Arg250His
NP_861546.1:p.Arg291His
NP_861970.1:p.Arg291His
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,665,051 - 29,665,051CLINVAR
GRCh372230,061,040 - 30,061,040CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13811915
Created: 2018-11-06
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.