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Variant : CV649351 (NM_000268.3(NF2):c.1003G>T (p.Glu335Ter)) Homo sapiens

Symbol: CV649351
Name: NM_000268.3(NF2):c.1003G>T (p.Glu335Ter)
Condition: Neurofibromatosis, type 2 [RCV000793709]
Clinical Significance: pathogenic
Last Evaluated: 10/04/2018
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.1003G>T
NP_000259.1:p.Glu335Ter
NP_057502.2:p.Glu335Ter
NP_861546.1:p.Glu335Ter
NP_861970.1:p.Glu335Ter
LRG_511t1:c.1003G>T
LRG_511t2:c.1003G>T
NM_016418.5:c.1003G>T
NM_181825.3:c.1003G>T
NM_181832.3:c.1003G>T
NM_181833.2:c.448-22923G>T
NM_181830.3:c.754G>T
NM_181831.3:c.754G>T
NM_181828.3:c.877G>T
NM_181829.3:c.880G>T
LRG_511:g.73274G>T
NG_009057.1:g.73274G>T
NC_000022.11:g.29671829G>T
NC_000022.10:g.30067818G>T
NR_156186.1:n.1562G>T
LRG_511p1:p.Glu335Ter
LRG_511p2:p.Glu335Ter
NP_861968.1:p.Glu252Ter
NP_861969.1:p.Glu252Ter
NP_861966.1:p.Glu293Ter
NP_861967.1:p.Glu294Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,671,829 - 29,671,829CLINVAR
GRCh372230,067,818 - 30,067,818CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14712154
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.