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Variant : CV480394 (NM_000268.3(NF2):c.1445C>G (p.Pro482Arg)) Homo sapiens

Symbol: CV480394
Name: NM_000268.3(NF2):c.1445C>G (p.Pro482Arg)
Condition: Hereditary cancer-predisposing syndrome [RCV000571543]
Clinical Significance: uncertain significance
Last Evaluated: 09/13/2017
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): NC_000022.10:g.30070929C>G
LRG_511p1:p.Pro482Arg
LRG_511p2:p.Pro482Arg
NP_000259.1:p.Pro482Arg
NP_057502.2:p.Pro482Arg
LRG_511t1:c.1445C>G
LRG_511t2:c.1445C>G
NM_016418.5:c.1445C>G
NM_181833.2:c.448-19812C>G
LRG_511:g.76385C>G
NG_009057.1:g.76385C>G
NC_000022.11:g.29674940C>G
NM_000268.3:c.1445C>G
NM_181825.3:c.1445C>G
NM_181830.3:c.1196C>G
NM_181831.3:c.1196C>G
NM_181828.3:c.1319C>G
NM_181829.3:c.1322C>G
NM_181832.3:c.1445C>G
NR_156186.1:n.2004C>G
NP_861968.1:p.Pro399Arg
NP_861969.1:p.Pro399Arg
NP_861966.1:p.Pro440Arg
NP_861967.1:p.Pro441Arg
NP_861546.1:p.Pro482Arg
NP_861970.1:p.Pro482Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,674,940 - 29,674,940CLINVAR
GRCh372230,070,929 - 30,070,929CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13494585
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.