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Variant : CV390486 (NM_000268.3(NF2):c.1490G>C (p.Ser497Thr)) Homo sapiens

Symbol: CV390486
Name: NM_000268.3(NF2):c.1490G>C (p.Ser497Thr)
Condition: Neurofibromatosis, type 2 [RCV000804584]|not specified [RCV000455655]
Clinical Significance: uncertain significance
Last Evaluated: 12/07/2018
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.1490G>C
LRG_511t2:c.1490G>C
NM_181833.2:c.448-16513G>C
LRG_511:g.79684G>C
NG_009057.1:g.79684G>C
NC_000022.11:g.29678239G>C
NC_000022.10:g.30074228G>C
LRG_511p1:p.Ser497Thr
LRG_511p2:p.Ser497Thr
NP_000259.1:p.Ser497Thr
NP_057502.2:p.Ser497Thr
NM_000268.3:c.1490G>C
NM_016418.5:c.1490G>C
NM_181830.3:c.1241G>C
NM_181831.3:c.1241G>C
NM_181829.3:c.1367G>C
NM_181832.3:c.1490G>C
NR_156186.1:n.2049G>C
NP_861968.1:p.Ser414Thr
NP_861969.1:p.Ser414Thr
NP_861966.1:p.Ser455Thr
NM_181828.3:c.1364G>C
NM_181825.3:c.1490G>C
NP_861967.1:p.Ser456Thr
NP_861546.1:p.Ser497Thr
NP_861970.1:p.Ser497Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,678,239 - 29,678,239CLINVAR
GRCh372230,074,228 - 30,074,228CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12896666
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.