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Variant : CV653312 (NM_000268.3(NF2):c.516+1G>A) Homo sapiens

Symbol: CV653312
Name: NM_000268.3(NF2):c.516+1G>A
Condition: Neurofibromatosis, type 2 [RCV000801012]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2018
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+1G>A
LRG_511t2:c.516+1G>A
NM_181830.3:c.267+1G>A
NM_181831.3:c.267+1G>A
NM_181828.3:c.390+1G>A
NM_181829.3:c.393+1G>A
NM_181833.2:c.447+12441G>A
NM_000268.3:c.516+1G>A
NM_016418.5:c.516+1G>A
NM_181825.3:c.516+1G>A
NM_181832.3:c.516+1G>A
LRG_511:g.56171G>A
NG_009057.1:g.56171G>A
NC_000022.11:g.29654726G>A
NC_000022.10:g.30050715G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,654,726 - 29,654,726CLINVAR
GRCh372230,050,715 - 30,050,715CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14730578
Created: 2019-09-06
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.