All transcript variants in gene NF2

Information The variants shown are described using the transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
+/+ - c.(?) r.(?) p.(?) g.(?_29999545)_(30074313_30077427)del - NF2_000045 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - NF2 exons 1-14 deletion - - Despoina Kalfakakou
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