Individual #00019606

Reference -
Gender F
Geographic origin -
Geographic origin -
Population -
Consanguinity no
Remarks -
Panel size 1
Diseases CRC, ENC
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011822 64y - - - Despoina Kalfakakou

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000011821 42y - - Yes Yes No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005964 DNA SEQ 1 MSH2 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #2 +/+ g.47641555C>T Thodi et al (2010) Vargas-Parra et al (2017) MSH2_000089 rs1114167845 - Germline yes - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.940C>T, NM_001258281.1:c.742C>T r.(?) p.(Gln314*), p.(Gln248*)
Legend