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Variant : CV403914 (NM_000268.3(NF2):c.293C>A (p.Ala98Asp)) Homo sapiens

Symbol: CV403914
Name: NM_000268.3(NF2):c.293C>A (p.Ala98Asp)
Condition: Neurofibromatosis, type 2 [RCV000470208]
Clinical Significance: uncertain significance
Last Evaluated: 05/16/2016
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): NM_181833.2:c.293C>A
NR_156186.1:n.852C>A
NP_861971.1:p.Ala98Asp
NM_181825.3:c.293C>A
LRG_511t1:c.293C>A
LRG_511t2:c.293C>A
NM_016418.5:c.293C>A
LRG_511:g.40587C>A
NG_009057.1:g.40587C>A
NC_000022.11:g.29639142C>A
NC_000022.10:g.30035131C>A
LRG_511p1:p.Ala98Asp
LRG_511p2:p.Ala98Asp
NP_000259.1:p.Ala98Asp
NP_057502.2:p.Ala98Asp
NM_000268.3:c.293C>A
NM_181831.3:c.115-3060C>A
NM_181829.3:c.240+2266C>A
NM_181832.3:c.293C>A
NM_181830.3:c.115-3060C>A
NP_861966.1:p.Ala56Asp
NP_861546.1:p.Ala98Asp
NP_861970.1:p.Ala98Asp
NM_181828.3:c.167C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,639,142 - 29,639,142CLINVAR
GRCh372230,035,131 - 30,035,131CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Age Of Onset: all ages
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12888054
Created: 2017-05-09
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.