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     

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Consanguinity     

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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 - - 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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