Full data view for gene MLH1

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

7 entries on 1 page. Showing entries 1 - 7.
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.1321G>A r.(?) p.(Ala441Thr) Parent #2 g.37067410G>A - MLH1_000011 rs63750365 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Phthiotis Evrytania Greek no - 1 Despoina Kalfakakou
-/- - c.1321G>A r.(?) p.(Ala441Thr) Parent #2 g.37067410G>A - MLH1_000011 rs63750365 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lamia - Greek no - 4 Despoina Kalfakakou
-/- - c.1321G>A r.(?) p.(Ala441Thr) Parent #2 g.37067410G>A - MLH1_000011 rs63750365 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Pogoni, Ioannina - Greek no - 1 Despoina Kalfakakou
-/- - c.1321G>A r.(?) p.(Ala441Thr) Parent #2 g.37067410G>A - MLH1_000011 rs63750365 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kyriaki, Boeotia Chostia, Boeotia Greek no - 1 Despoina Kalfakakou
-/- - c.1321G>A r.(?) p.(Ala441Thr) Parent #2 g.37067410G>A - MLH1_000011 rs63750365 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kamares, Aigaleia Skala, Nafpaktia Greek no - 3 Despoina Kalfakakou
-/- - c.1321G>A r.(?) p.(Ala441Thr) Parent #2 g.37067410G>A - MLH1_000011 rs63750365 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini Zacharo, Elis Greek no - 1 Despoina Kalfakakou
-/- - c.1321G>A r.(?) p.(Ala441Thr) Parent #2 g.37067410G>A - MLH1_000011 rs63750365 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karpenissi - Greek no - 1 Despoina Kalfakakou
Legend