Full data view for gene MLH1

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

68 entries on 1 page. Showing entries 1 - 68.
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.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Liti, Thessaloniki - Greek no - 3 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kozani Piraeus Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neochori, Laconia Gytheio, Laconia Greek no - 2 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Preveza - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Xanthi Ioannina Greek no - 3 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa, SIC - F Italy - Italian no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kranoula, Ioannina - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Naxos Athens Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Trikala - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andros Athens Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 ColPol, Polyposis - M Messene, Messenia Armenia Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - F Kalymnos Folegandros Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC, PrCa - M Lagkadia, Arcadia - Greek no - 4 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chrysa, Aridaia, Pella - Greek no - 4 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC, OVCA - F Lagkadia, Arcadia - Greek no - 2 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Arcadia Ilia Greek no - 2 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Smyrna, Asia Minor Corfu Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 GIST - F Ierapetra, Crete - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Karditsa Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 2 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Aigio Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Vertitskos, Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno Heraklion Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Tinos - Greek no - 7 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andros USA Greek no - 4 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arachnaio, Argolis - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Gytheion, Laconia Tripoli, Arcadia Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 - - F Analipsi, Trichonida, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 CRC, HNSCC, PrCa, TRC - M Kefalonia - Greek no - 2 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 - - F Heraklion, Crete Tegea, Arcadia Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 ENC, EnPol, OVCA - F Argolida Corinthia Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 - - F Armenia Komotini Armenian-Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 - - F Serres Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 PrCa, RCC - M Ilia Constantinople Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 MNGM, Schw - M Volod Kastoria Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 ColPol, PNCA2 - M Epirus - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 HMGM, MenDis, MNGM, NDL, SIPol, TRC - F Ano Diminio, Corinthia Rizomylos, Aigio Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 AGCa - F Karya, Larisa Chavdata, Kephallinia Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 6 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Orestias - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Preveza Mytikas, Preveza Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pieria - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania – Northern Epirus - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Volos Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Fier, Albania - Albanian no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Neochori, Phthiotis - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Chrani, Arcadia - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Assos, Corinthia Vrachati, Corinthia Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalos, Heraklion Krousonas, Heraklion Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Xanthi - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F İzmir, Asia Minor - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Tyrnavos - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Daimonia, Laconia Floka, Laconia Greek no - 3 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Rhodes - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Koniakos, Phocis - Greek no - 4 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 TSC1 - F - - - - - 1 Despoina Kalfakakou
-/- - c.453+25A>G r.(=) p.(=) Parent #2 g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Skopelos Athens Greek no - 2 Despoina Kalfakakou
Legend