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Variant : CV571866 (NM_000268.3(NF2):c.516+2T>G) Homo sapiens

Symbol: CV571866
Name: NM_000268.3(NF2):c.516+2T>G
Condition: Neurofibromatosis, type 2 [RCV000685495]
Clinical Significance: likely pathogenic
Last Evaluated: 06/12/2018
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_511t1:c.516+2T>G
LRG_511t2:c.516+2T>G
NM_181833.2:c.447+12442T>G
NM_016418.5:c.516+2T>G
NC_000022.10:g.30050716T>G
NG_009057.1:g.56172T>G
NM_000268.3:c.516+2T>G
LRG_511:g.56172T>G
NC_000022.11:g.29654727T>G
NM_181830.3:c.267+2T>G
NM_181831.3:c.267+2T>G
NM_181828.3:c.390+2T>G
NM_181829.3:c.393+2T>G
NM_181825.3:c.516+2T>G
NM_181832.3:c.516+2T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,654,727 - 29,654,727CLINVAR
GRCh372230,050,716 - 30,050,716CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13804998
Created: 2018-11-06
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.