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Variant : CV480393 (NM_000268.3(NF2):c.1395G>A (p.Glu465=)) Homo sapiens

Symbol: CV480393
Name: NM_000268.3(NF2):c.1395G>A (p.Glu465=)
Condition: Hereditary cancer-predisposing syndrome [RCV000566736]
Clinical Significance: likely benign
Last Evaluated: 09/20/2017
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_000022.11:g.29674890G>A
LRG_511:g.76335G>A
LRG_511p2:p.Glu465=
LRG_511t1:c.1395G>A
LRG_511t2:c.1395G>A
NM_016418.5:c.1395G>A
NM_181833.2:c.448-19862G>A
NG_009057.1:g.76335G>A
NC_000022.10:g.30070879G>A
LRG_511p1:p.Glu465=
NP_000259.1:p.Glu465=
NP_057502.2:p.Glu465=
NM_181830.3:c.1146G>A
NM_181829.3:c.1272G>A
NM_181825.3:c.1395G>A
NR_156186.1:n.1954G>A
NP_861966.1:p.Glu423=
NP_861546.1:p.Glu465=
NP_861970.1:p.Glu465=
NM_181831.3:c.1146G>A
NM_181828.3:c.1269G>A
NM_181832.3:c.1395G>A
NP_861968.1:p.Glu382=
NP_861969.1:p.Glu382=
NP_861967.1:p.Glu424=
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,674,890 - 29,674,890CLINVAR
GRCh372230,070,879 - 30,070,879CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13481445
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.