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Variant : CV471030 (NM_000268.3(NF2):c.586C>T (p.Arg196Ter)) Homo sapiens

Symbol: CV471030
Name: NM_000268.3(NF2):c.586C>T (p.Arg196Ter)
Condition: Neurofibromatosis, type 2 [RCV000554782]|not provided [RCV000599281]
Clinical Significance: pathogenic
Last Evaluated: 07/03/2018
Review Status: criteria provided, multiple submitters, no conflicts|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): NM_000268.3:c.586C>T
NC_000022.10:g.30051652C>T
NP_057502.2:p.Arg196Ter
LRG_511t1:c.586C>T
NM_181833.2:c.447+13378C>T
NM_016418.5:c.586C>T
NC_000022.11:g.29655663C>T
LRG_511p1:p.Arg196Ter
LRG_511:g.57108C>T
LRG_511t2:c.586C>T
NP_000259.1:p.Arg196Ter
NG_009057.1:g.57108C>T
LRG_511p2:p.Arg196Ter
NM_181830.3:c.337C>T
NM_181831.3:c.337C>T
NM_181828.3:c.460C>T
NM_181829.3:c.463C>T
NM_181825.3:c.586C>T
NM_181832.3:c.586C>T
NR_156186.1:n.1145C>T
NP_861968.1:p.Arg113Ter
NP_861969.1:p.Arg113Ter
NP_861966.1:p.Arg154Ter
NP_861967.1:p.Arg155Ter
NP_861546.1:p.Arg196Ter
NP_861970.1:p.Arg196Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,655,663 - 29,655,663CLINVAR
GRCh372230,051,652 - 30,051,652CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13467497
Created: 2018-01-09
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.