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Variant : CV18324 (NM_000268.3(NF2):c.169C>T (p.Arg57Ter)) Homo sapiens

Symbol: CV18324
Name: NM_000268.3(NF2):c.169C>T (p.Arg57Ter)
Condition: Meningioma [RCV000003446]|Meningioma, somatic [RCV000003446]|Neurofibromatosis, type 2 [RCV000660130]|not provided [RCV000255708]
Clinical Significance: pathogenic|other
Last Evaluated: 12/27/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: stop-gain|intron|nonsense|intron variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_511t1:c.169C>T
LRG_511t2:c.169C>T
NM_016418.5:c.169C>T
LRG_511:g.38250C>T
NG_009057.1:g.38250C>T
NC_000022.11:g.29636805C>T
NC_000022.10:g.30032794C>T
LRG_511p2:p.Arg57Ter
LRG_511p1:p.Arg57Ter
NP_057502.2:p.Arg57Ter
NP_000259.1:p.Arg57Ter
NM_000268.3:c.169C>T
NM_181828.3:c.115-2285C>T
NM_181830.3:c.115-5397C>T
NM_181831.3:c.115-5397C>T
NM_181825.3:c.169C>T
NM_181829.3:c.169C>T
NM_181832.3:c.169C>T
NM_181833.2:c.169C>T
NR_156186.1:n.728C>T
NP_861546.1:p.Arg57Ter
NP_861970.1:p.Arg57Ter
NP_861971.1:p.Arg57Ter
NP_861967.1:p.Arg57Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,636,805 - 29,636,805CLINVAR
GRCh372230,032,794 - 30,032,794CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Trait Synonyms: Meligioma; Mengioma; Mengiomia; Menigiom; Menigioma; Meningioma, somatic



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8557321
Created: 2014-05-13
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.