All transcript variants in gene NF1

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

4 entries on 1 page. Showing entries 1 - 4.
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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.2255G>C - - g.29554239G>C - NF1_000096 - - - - - - - Stevi Xera
./. - c.2255G>C - - g.29554239G>C - NF1_000096 - - - - - - - Stevi Xera
./. - c.2255G>C - - g.29554239G>C - NF1_000096 - - - - - - - Stevi Xera
?/? - c.2255G>C r.(?) p.(Arg752Thr) g.29554239G>C - NF1_000096 - - Germline - - - - Despoina Kalfakakou
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