Full data view for gene NF2

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

12 entries on 1 page. Showing entries 1 - 12.
Legend  

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     

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Panel size     

Owner     
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tzoumerka, Arta - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F  Ioannina Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Kymi, Evia Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arta Ioannina Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 BrainCa - M Asia Minor Archangelos, Laconia Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontians of Russia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Hydra Laconia Greek no - 1 Despoina Kalfakakou
-?/-? - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Sitomena, Aetolia-Acarnania Maleyro, Aetolia-Acarnania - - - 1 Despoina Kalfakakou
Legend