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Variant : CV649354 (NM_000268.3(NF2):c.1301A>G (p.Glu434Gly)) Homo sapiens

Symbol: CV649354
Name: NM_000268.3(NF2):c.1301A>G (p.Glu434Gly)
Condition: Neurofibromatosis, type 2 [RCV000800642]
Clinical Significance: uncertain significance
Last Evaluated: 09/09/2018
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_511t1:c.1301A>G
LRG_511t2:c.1301A>G
NM_181830.3:c.1052A>G
NM_181831.3:c.1052A>G
NM_181828.3:c.1175A>G
NM_181829.3:c.1178A>G
NM_016418.5:c.1301A>G
NM_181825.3:c.1301A>G
NM_181832.3:c.1301A>G
NM_181833.2:c.448-21305A>G
LRG_511:g.74892A>G
NG_009057.1:g.74892A>G
NC_000022.11:g.29673447A>G
NC_000022.10:g.30069436A>G
NR_156186.1:n.1860A>G
LRG_511p1:p.Glu434Gly
LRG_511p2:p.Glu434Gly
NP_861968.1:p.Glu351Gly
NP_861969.1:p.Glu351Gly
NP_861966.1:p.Glu392Gly
NP_861967.1:p.Glu393Gly
NP_000259.1:p.Glu434Gly
NP_057502.2:p.Glu434Gly
NP_861546.1:p.Glu434Gly
NP_861970.1:p.Glu434Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,673,447 - 29,673,447CLINVAR
GRCh372230,069,436 - 30,069,436CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14729761
Created: 2019-09-06
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.