Individual #00021342

Reference -
Gender F
Geographic origin Pesta, Ioannina
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013862 65y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006931 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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     
1 Parent #2 -?/-? g.45797846G>A - MUTYH_000014 rs138089183 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.883C>T, NM_001048172.1:c.844C>T, NM_001048173.1:c.841C>T, NM_001048174.1:c.841C>T, NM_001128425.1:c.925C>T, NM_012222.2:c.916C>T r.(?) p.(Arg295Cys), p.(Arg282Cys), p.(Arg281Cys), p.(Arg309Cys), p.(Arg306Cys)
2 Parent #2 +/+ g.190660525C>T - PMS1_000027 rs375147123 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.163C>T, NM_001128143.1:c.163C>T, NM_001128144.1:c.163C>T r.(?) p.(Arg55*)
5 Parent #2 ./. g.1286469A>G - chr5_000002 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.32913691C>T - BRCA2_000002 rs28897734 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5199C>T r.(=) p.(=)
13 Parent #2 +/+ g.32936733A>T - BRCA2_000255 rs80359014 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7879A>T r.(?) p.(Ile2627Phe)
13 Parent #2 -/- g.32953971C>T - BRCA2_000095 rs28897755 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9038C>T r.(?) p.(Thr3013Ile)
14 Parent #2 ?/? g.45658429C>T - FANCM_000029 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5204C>T r.(?) p.(Ser1735Leu)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
15 Parent #2 ?/? g.89807795A>G - FANCI_000047 rs112932178 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.712A>G, NM_018193.2:c.712A>G r.(?) p.(Ser238Gly)
16 Parent #2 -/- g.2103392A>T - TSC2_000059 rs137853994 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.275A>T, NM_001077183.1:c.275A>T, NM_001114382.1:c.275A>T r.(?) p.(Glu92Val)
16 Parent #2 ./. g.89986130T>C - chr16_000005 rs1110400 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.29663540A>G - NF1_000302 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6084+49A>G, NM_001042492.2:c.6147+49A>G r.(=) p.(=)
17 Parent #2 -/- g.29677184C>T - NF1_000028 rs17884859 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7259-17C>T, NM_001042492.2:c.7322-17C>T r.(=) p.(=)
17 Parent #2 -/- g.29701152T>C - NF1_000160 rs142636150 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.8436T>C, NM_001042492.2:c.8499T>C r.(=) p.(=)
19 Parent #2 ?/? g.45855529C>T - ERCC2_000051 rs141808167 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2128G>A r.(?) p.(Val710Met)
Legend