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Variant : CV352340 (NM_000268.3(NF2):c.*4G>A) Homo sapiens

Symbol: CV352340
Name: NM_000268.3(NF2):c.*4G>A
Condition: Hereditary cancer-predisposing syndrome [RCV000574887]|Neurofibromatosis, type 2 [RCV000321729]|not provided [RCV000589011]
Clinical Significance: benign|likely benign
Last Evaluated: 02/10/2017
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_511t1:c.*4G>A
LRG_511t2:c.*64G>A
NM_000268.3:c.*4G>A
NM_016418.5:c.*64G>A
LRG_511:g.96251G>A
NG_009057.1:g.96251G>A
NC_000022.11:g.29694806G>A
NC_000022.10:g.30090795G>A
NM_181833.2:c.*4G>A
NM_181828.3:c.*64G>A
NM_181829.3:c.*64G>A
NM_181830.3:c.*64G>A
NM_181832.3:c.*79G>A
NR_156186.1:n.2351G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,694,806 - 29,694,806CLINVAR
GRCh372230,090,795 - 30,090,795CLINVAR
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: 11629419
Created: 2017-01-11
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.