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Variant : CV471895 (NM_000268.3(NF2):c.1128G>C (p.Arg376=)) Homo sapiens

Symbol: CV471895
Name: NM_000268.3(NF2):c.1128G>C (p.Arg376=)
Condition: Hereditary cancer-predisposing syndrome [RCV000567769]|Neurofibromatosis, type 2 [RCV000548334]
Clinical Significance: likely benign
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): NM_000268.3:c.1128G>C
LRG_511p1:p.Arg376=
LRG_511t1:c.1128G>C
LRG_511t2:c.1128G>C
NP_057502.2:p.Arg376=
NM_181833.2:c.448-21478G>C
LRG_511:g.74719G>C
NC_000022.11:g.29673274G>C
NM_016418.5:c.1128G>C
NC_000022.10:g.30069263G>C
NG_009057.1:g.74719G>C
LRG_511p2:p.Arg376=
NP_000259.1:p.Arg376=
NR_156186.1:n.1687G>C
NP_861968.1:p.Arg293=
NP_861969.1:p.Arg293=
NP_861967.1:p.Arg335=
NM_181828.3:c.1002G>C
NM_181829.3:c.1005G>C
NM_181825.3:c.1128G>C
NM_181832.3:c.1128G>C
NP_861546.1:p.Arg376=
NM_181830.3:c.879G>C
NM_181831.3:c.879G>C
NP_861966.1:p.Arg334=
NP_861970.1:p.Arg376=
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,673,274 - 29,673,274CLINVAR
GRCh372230,069,263 - 30,069,263CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13474970
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.