Full data view for gene MAX

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

21 entries on 1 page. Showing entries 1 - 21.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-30C>G r.(=) p.(=) Parent #2 g.65569087G>C - MAX_000017 - - - - DNA SEQ-NG-I 1 OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.25G>T r.(?) p.(Val9Leu) Parent #2 g.65569033C>A - MAX_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Skarfeia, Phthiotis Kolaka, Phthiotis Greek no - 1 Despoina Kalfakakou
./. - c.25G>T r.(?) p.(Val9Leu) Parent #2 g.65569033C>A - MAX_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Damoulianata, Kefalonia - Greek no - 4 Despoina Kalfakakou
./. - c.25G>T r.(?) p.(Val9Leu) Parent #2 g.65569033C>A - MAX_000001 - - - - DNA SEQ-NG-I 1 BrCa - M Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.25G>T r.(?) p.(Val9Leu) Parent #2 g.65569033C>A - MAX_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Lefkas - Greek no - 1 Despoina Kalfakakou
./. - c.37-16T>C r.(=) p.(=) Parent #2 g.65568306A>G - MAX_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.37-15T>C r.(=) p.(=) Parent #2 g.65568305A>G - MAX_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus - Cypriot no - 1 Despoina Kalfakakou
./. - c.37-12C>T r.(=) p.(=) Parent #2 g.65568302G>A - MAX_000016 - - - - DNA SEQ-NG-I 1 OVCA - F Elassona, Larisa Livera, Kozani Greek no - 1 Despoina Kalfakakou
./. - c.87T>C r.(=) p.(=) Parent #2 g.65560510A>G - MAX_000011 - - - - DNA SEQ-NG-I 1 BrCa, ENC, NF, TRC - F Ios Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.171+36A>G r.(=) p.(=) Parent #2 g.65560390T>C - MAX_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Tinos - Greek no - 7 Despoina Kalfakakou
./. - c.171+36A>G r.(=) p.(=) Parent #2 g.65560390T>C - MAX_000010 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.171+41C>T r.(=) p.(=) Parent #2 g.65560385G>A - MAX_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.172-48G>T r.(=) p.(=) Parent #2 g.65544802C>A - MAX_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Kavasida, Elis Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.177C>G r.(=) p.(=) Parent #2 g.65544749G>C - MAX_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.269G>A r.(?) p.(Arg90Gln) Parent #2 g.65544657C>T - MAX_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Kilkis Kavala Greek no - 1 Despoina Kalfakakou
./. - c.295+6C>T r.(=) p.(=) Parent #2 g.65544625G>A - MAX_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Chania Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.295+39G>A r.(=) p.(=) Parent #2 g.65544592C>T - MAX_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.341A>G r.(?) p.(Asn114Ser) Parent #2 g.65543336T>C - MAX_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus - Cypriot no - 1 Despoina Kalfakakou
./. - c.375C>T r.(=) p.(=) Parent #2 g.65543302G>A - MAX_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Lasithi Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.386G>A r.(?) p.(Ser129Asn) Parent #2 g.65543291C>T - MAX_000015 - - - - DNA SEQ-NG-I 1 OVCA - F ─░zmir, Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.*35_*38del r.(=) p.(=) Parent #2 g.65543156_65543159del - MAX_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Peloponnese Izmir Greek no - 3 Despoina Kalfakakou
Legend