Individual #00021846

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Rethimno
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CRC, OVCA
Owner name Despoina Kalfakakou


Phenotypes

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     
0000013908 67y - - - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013412 45y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002153 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.47635608_47635610del - MSH2_000056 rs267607919 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.280_282del, NM_001258281.1:c.82_84del r.(?) p.(Leu94del), p.(Leu28del)
8 Parent #2 ?/? g.30969257G>A - WRN_000125 rs773337566 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2215G>A r.(?) p.(Val739Ile)
8 Parent #2 ?/? g.145738410_145738411insGGTGCA - RECQL4_000103 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2575_2576insTGCACC - p.?
8 Parent #2 ?/? g.145739116_145739122del - RECQL4_000105 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-26_2059-20del - p.?
8 Parent #2 -/- g.145739817G>A - RECQL4_000108 rs35876881 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1704+9C>T - p.?
8 Parent #1 ?/? g.145742172C>G - RECQL4_000212 rs35058172 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.355-24G>C - p.?
8 Parent #2 ?/? g.145742172C>T - RECQL4_000128 rs35058172 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.355-24G>A - p.?
8 Parent #2 -/- g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.161A>G - p.?
9 Parent #2 ?/? g.35078227G>A - FANCG_000002 rs201153812 - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.421C>T r.(?) p.(Arg141Cys)
11 Parent #2 -?/-? g.64572626G>A - MEN1_000035 rs878855188 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1245C>T, NM_130799.2:c.1230C>T, NM_130800.2:c.1245C>T, NM_130801.2:c.1245C>T, NM_130802.2:c.1245C>T, NM_130803.2:c.1245C>T, NM_130804.2:c.1245C>T r.(=) p.(=)
13 Parent #2 ./. g.73908802T>A - chr13_000012 - - - - - - - Despoina Kalfakakou - - - -
X Parent #2 ./. g.51241689G>T - chrX_000013 - - - - - - - Despoina Kalfakakou - - - -
Legend