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Variant : CV351311 (NM_000268.3(NF2):c.*1848C>T) Homo sapiens

Symbol: CV351311
Name: NM_000268.3(NF2):c.*1848C>T
Condition: Neurofibromatosis, type 2 [RCV000279756]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_181833.2:c.*1848C>T
NM_181828.3:c.*1908C>T
NM_181829.3:c.*1908C>T
NM_181830.3:c.*1908C>T
NR_156186.1:n.4195C>T
LRG_511t1:c.*1848C>T
LRG_511t2:c.*1908C>T
NM_000268.3:c.*1848C>T
NM_016418.5:c.*1908C>T
LRG_511:g.98095C>T
NG_009057.1:g.98095C>T
NC_000022.11:g.29696650C>T
NC_000022.10:g.30092639C>T
NM_181832.3:c.*1923C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,696,650 - 29,696,650CLINVAR
GRCh372230,092,639 - 30,092,639CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Age Of Onset: all ages
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11648004
Created: 2017-01-11
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.