Full data view for gene NF1

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

8 entries on 1 page. Showing entries 1 - 8.
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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.2326-49T>G r.(=) p.(=) Parent #2 g.29554492T>G - NF1_000088 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Greece Romania Romanian no - 1 Despoina Kalfakakou
?/? - c.2326-49T>G r.(=) p.(=) Parent #2 g.29554492T>G - NF1_000088 - - Germline - - - - DNA SEQ-NG-I 1 RCC - F Kanalia, Magnesia Phylace, Magnesia Greek no - 1 Despoina Kalfakakou
?/? - c.2326-49T>G r.(=) p.(=) Parent #2 g.29554492T>G - NF1_000088 - - Germline - - - - DNA SEQ-NG-I 1 GC - M Albania - Albanian no - 1 Despoina Kalfakakou
?/? - c.2326-49T>G r.(=) p.(=) Parent #2 g.29554492T>G - NF1_000088 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ukraine - Ukrainian no - 1 Despoina Kalfakakou
?/? - c.2326-49T>G r.(=) p.(=) Parent #2 g.29554492T>G - NF1_000088 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Cephalonia Greek no - 1 Despoina Kalfakakou
?/? - c.2326-49T>G r.(=) p.(=) Parent #2 g.29554492T>G - NF1_000088 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Agios Georgios, Pella - Greek no - 1 Despoina Kalfakakou
?/? - c.2326-49T>G r.(=) p.(=) Parent #2 g.29554492T>G - NF1_000088 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
?/? - c.2326-49T>G r.(=) p.(=) Parent #2 g.29554492T>G - NF1_000088 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
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