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Variant : CV404362 (NM_000268.3(NF2):c.1494C>T (p.Phe498=)) Homo sapiens

Symbol: CV404362
Name: NM_000268.3(NF2):c.1494C>T (p.Phe498=)
Condition: Neurofibromatosis, type 2 [RCV000460890]
Clinical Significance: likely benign
Last Evaluated: 11/26/2016
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): NP_861967.1:p.Phe457=
LRG_511t1:c.1494C>T
LRG_511t2:c.1494C>T
NM_016418.5:c.1494C>T
NM_181833.2:c.448-16509C>T
LRG_511:g.79688C>T
NG_009057.1:g.79688C>T
NC_000022.11:g.29678243C>T
NC_000022.10:g.30074232C>T
LRG_511p1:p.Phe498=
LRG_511p2:p.Phe498=
NP_000259.1:p.Phe498=
NP_057502.2:p.Phe498=
NM_000268.3:c.1494C>T
NM_181830.3:c.1245C>T
NM_181831.3:c.1245C>T
NM_181825.3:c.1494C>T
NM_181832.3:c.1494C>T
NP_861966.1:p.Phe456=
NP_861546.1:p.Phe498=
NP_861970.1:p.Phe498=
NM_181828.3:c.1368C>T
NM_181829.3:c.1371C>T
NR_156186.1:n.2053C>T
NP_861968.1:p.Phe415=
NP_861969.1:p.Phe415=
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,678,243 - 29,678,243CLINVAR
GRCh372230,074,232 - 30,074,232CLINVAR
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: 12883076
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.