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Variant : CV18332 (NM_000268.3(NF2):c.1219C>T (p.Gln407Ter)) Homo sapiens

Symbol: CV18332
Name: NM_000268.3(NF2):c.1219C>T (p.Gln407Ter)
Condition: Neurofibromatosis, type 2 [RCV000003454]
Clinical Significance: pathogenic
Last Evaluated: 03/14/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant|nonsense|stop-gain
Evidence: literature only
HGVS Name(s): LRG_511t1:c.1219C>T
LRG_511t2:c.1219C>T
NM_000268.3:c.1219C>T
NM_016418.5:c.1219C>T
LRG_511:g.74810C>T
NG_009057.1:g.74810C>T
NC_000022.11:g.29673365C>T
NC_000022.10:g.30069354C>T
LRG_511p1:p.Gln407Ter
LRG_511p2:p.Gln407Ter
NP_861968.1:p.Gln324Ter
NP_861969.1:p.Gln324Ter
NP_861966.1:p.Gln365Ter
NP_861967.1:p.Gln366Ter
NP_861546.1:p.Gln407Ter
NP_057502.2:p.Gln407Ter
NP_000259.1:p.Gln407Ter
NP_861970.1:p.Gln407Ter
NM_181828.3:c.1093C>T
NM_181829.3:c.1096C>T
NM_181825.3:c.1219C>T
NM_181832.3:c.1219C>T
NM_181833.2:c.448-21387C>T
NM_181830.3:c.970C>T
NM_181831.3:c.970C>T
NR_156186.1:n.1778C>T
NP_057502.2:p.Gln407Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,673,365 - 29,673,365CLINVAR
GRCh372230,069,354 - 30,069,354CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Age Of Onset: all ages|variable
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8557329
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.