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Variant : CV347302 (NM_000268.3(NF2):c.676A>C (p.Asn226His)) Homo sapiens

Symbol: CV347302
Name: NM_000268.3(NF2):c.676A>C (p.Asn226His)
Condition: Hereditary cancer-predisposing syndrome [RCV000572255]|Neurofibromatosis, type 2 [RCV000368005]
Clinical Significance: uncertain significance
Last Evaluated: 05/30/2017
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.676A>C
LRG_511t1:c.676A>C
LRG_511t2:c.676A>C
NM_181833.2:c.447+18920A>C
NM_016418.5:c.676A>C
LRG_511:g.62650A>C
NG_009057.1:g.62650A>C
NC_000022.11:g.29661205A>C
NC_000022.10:g.30057194A>C
LRG_511p1:p.Asn226His
LRG_511p2:p.Asn226His
NP_000259.1:p.Asn226His
NP_057502.2:p.Asn226His
NP_861968.1:p.Asn143His
NP_861969.1:p.Asn143His
NM_181831.3:c.427A>C
NP_861966.1:p.Asn184His
NM_181828.3:c.550A>C
NM_181830.3:c.427A>C
NP_861967.1:p.Asn185His
NP_861970.1:p.Asn226His
NM_181829.3:c.553A>C
NP_861546.1:p.Asn226His
NM_181825.3:c.676A>C
NM_181832.3:c.676A>C
NR_156186.1:n.1235A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,661,205 - 29,661,205CLINVAR
GRCh372230,057,194 - 30,057,194CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition
Age Of Onset: all ages
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11660554
Created: 2017-01-11
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.