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Variant : CV347300 (NM_000268.3(NF2):c.-284C>A) Homo sapiens

Symbol: CV347300
Name: NM_000268.3(NF2):c.-284C>A
Condition: Neurofibromatosis, type 2 [RCV000285748]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_181832.3:c.-284C>A
LRG_511t1:c.-284C>A
LRG_511t2:c.-284C>A
NM_000268.3:c.-284C>A
NM_016418.5:c.-284C>A
LRG_511:g.5160C>A
NG_009057.1:g.5160C>A
NC_000022.11:g.29603715C>A
NC_000022.10:g.29999704C>A
NM_181833.2:c.-284C>A
NR_156186.1:n.160C>A
NM_181825.3:c.-284C>A
NM_181828.3:c.-284C>A
NM_181829.3:c.-284C>A
NM_181830.3:c.-284C>A
NM_181831.3:c.-284C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,603,715 - 29,603,715CLINVAR
GRCh372229,999,704 - 29,999,704CLINVAR
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: 11649138
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.