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Variant : CV337720 (NM_000268.3(NF2):c.-246C>G) Homo sapiens

Symbol: CV337720
Name: NM_000268.3(NF2):c.-246C>G
Condition: Neurofibromatosis, type 2 [RCV000376898]
Clinical Significance: benign
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): LRG_511t1:c.-246C>G
LRG_511t2:c.-246C>G
NM_000268.3:c.-246C>G
NM_016418.5:c.-246C>G
LRG_511:g.5198C>G
NG_009057.1:g.5198C>G
NC_000022.11:g.29603753C>G
NC_000022.10:g.29999742C>G
NM_181833.2:c.-246C>G
NR_156186.1:n.198C>G
NM_181832.3:c.-246C>G
NM_181825.3:c.-246C>G
NM_181828.3:c.-246C>G
NM_181829.3:c.-246C>G
NM_181830.3:c.-246C>G
NM_181831.3:c.-246C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,603,753 - 29,603,753CLINVAR
GRCh372229,999,742 - 29,999,742CLINVAR
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: 11623770
Created: 2017-01-11
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.