Genomic variant #0000041113

Individual ID 00020893
Chromosome 22
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_29999545)_(30074313_30077427)del
Reference -
DB-ID NF2_000045
dbSNP ID -
Variant remarks Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is┬árecommended to describe it only using genomic coordinates.
Genetic origin Germline
Segregation -
Also Known As NF2 exons 1-14 deletion
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF2 NM_000268.3 +/+ - c.(?) r.(?) p.(?)
NF2 NM_016418.5 +/+ - c.(?) r.(?) p.(?)
NF2 NM_181825.2 +/+ - c.(?) r.(?) p.(?)
NF2 NM_181828.2 +/+ - c.(?) r.(?) p.(?)
NF2 NM_181829.2 +/+ - c.(?) r.(?) p.(?)
NF2 NM_181830.2 +/+ - c.(?) r.(?) p.(?)
NF2 NM_181831.2 +/+ - c.(?) r.(?) p.(?)
NF2 NM_181832.2 +/+ - c.(?) r.(?) p.(?)
NF2 NM_181833.2 +/+ - c.(?) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007513 DNA MLPA 1 NF2 1 Despoina Kalfakakou