Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV534164 (NM_000268.3(NF2):c.599+3G>A) Homo sapiens

Symbol: CV534164
Name: NM_000268.3(NF2):c.599+3G>A
Condition: Neurofibromatosis, type 2 [RCV000632641]
Clinical Significance: uncertain significance
Last Evaluated: 07/05/2018
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.599+3G>A
LRG_511:g.57124G>A
NG_009057.1:g.57124G>A
NC_000022.11:g.29655679G>A
NC_000022.10:g.30051668G>A
LRG_511t2:c.599+3G>A
NM_000268.3:c.599+3G>A
NM_016418.5:c.599+3G>A
NM_181830.3:c.350+3G>A
NM_181831.3:c.350+3G>A
NM_181833.2:c.447+13394G>A
NM_181828.3:c.473+3G>A
NM_181829.3:c.476+3G>A
NM_181825.3:c.599+3G>A
NM_181832.3:c.599+3G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,655,679 - 29,655,679CLINVAR
GRCh372230,051,668 - 30,051,668CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13615259
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.