Full data view for gene NF1

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Tilos Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Mandra - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 BrCa, ENC - F Kefalonia Pisidia, Asia Minor Greek no - 3 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Constantinople Mytikas, Etolia-Akarnania Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Armenia Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Kavala Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Both (homozygous) g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Milos - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 - - F Nafplion Thiva Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 BrainCa - M Elassona - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Corfu Megalopolis, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Austria Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Pontus (Kazakhstan) - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
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