Full data view for gene MAX

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

24 entries on 1 page. Showing entries 1 - 24.
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     

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.37-14_37-13insC r.(=) p.(=) Parent #2 g.65568303_65568304insG - MAX_000018 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Skopelos Athens Greek no - 2 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.37-12C>T r.(=) p.(=) Parent #2 g.65568302G>A - MAX_000016 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Caucasus, Russia & Asia Minor - 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+36A>G r.(=) p.(=) Parent #2 g.65560390T>C - MAX_000010 - - - - - - - DNA SEQ-NG-I 1 BrCa - 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