Individual #00020775

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Rethimno, Crete
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases AML, BrCa, CRC, PNCA2, TRC
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000012560 67y - - - - Despoina Kalfakakou

Pancreatic cancer 2 (PNCA2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012561 69y - - - Despoina Kalfakakou

Acute Myeloid Leukemia (AML)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012558 54y - - - 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     
0000012559 66y - - - - - - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012557 52y - - Papillary Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001438 DNA SEQ-NG-I 1 - 26 Despoina Kalfakakou



Variants

26 entries on 1 page. Showing entries 1 - 26.
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.29455276G>A - ALK_000005 rs145271283 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2526C>T r.(=) p.(=)
3 Parent #2 -/- g.14199940C>A - XPC_000002 rs182616621 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1332G>T, NM_004628.4:c.1443G>T r.(?) p.(Lys444Asn), p.(Lys481Asn)
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
7 Parent #2 ?/? g.6042129G>A - PMS2_000033 rs35311046 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.492C>T r.(=) p.(=)
7 Parent #2 ?/? g.6042143G>T - PMS2_000043 rs36038802 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.478C>A r.(?) p.(Gln160Lys)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-43T>C r.(=) p.(=)
7 Parent #2 ?/? g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.250+51C>T r.(=) p.(=)
7 Parent #2 ?/? g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
7 Parent #2 ?/? g.66453508A>T - SBDS_000010 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-22T>A r.(=) p.(=)
7 Parent #2 ?/? g.66453515C>A - SBDS_000009 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
10 Parent #2 -?/-? g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.975A>G r.(=) p.(=)
10 Parent #2 -?/-? g.104357064C>T - SUFU_000003 rs202247757 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
11 Parent #2 ?/? g.67250655G>A - AIP_000021 rs139459091 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.26G>A r.(?) p.(Arg9Gln)
11 Parent #2 -?/-? g.108150352T>C - ATM_000051 rs3092825 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+17T>C r.(=) p.(=)
11 Parent #2 ?/? g.108159861A>G - ATM_000115 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4236+31A>G r.(=) p.(=)
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.2136701C>T - TSC2_000218 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4850-32C>T, NM_001077183.1:c.4649-32C>T, NM_001114382.1:c.4781-32C>T r.(=) p.(=)
16 Parent #2 -?/-? g.68867187C>G - CDH1_000003 rs139757930 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2440-6C>G r.(=) p.(=)
16 Parent #2 ?/? g.89851308G>A - FANCA_000155 rs761957732 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1424C>T r.(?) p.(Thr475Met)
17 Parent #2 ?/? g.29562814_29562815del - NF1_000246 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3870+24_3870+25del, NM_001042492.2:c.3870+24_3870+25del r.(=) p.(=)
17 Parent #2 ?/? g.29562932G>A - NF1_000139 rs558421445 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3871-4G>A, NM_001042492.2:c.3871-4G>A r.spl? p.?
17 Parent #2 ?/? g.74471150C>A - RHBDF2_000045 rs148300552 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1189G>T, NM_024599.5:c.1276G>T r.(?) p.(Ala397Ser), p.(Ala426Ser)
22 Parent #2 ?/? g.29091142C>T - CHEK2_000016  rs1555913429 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1477G>A, NM_001257387.1:c.685G>A, NM_007194.3:c.1348G>A, NM_145862.2:c.1261G>A r.(?) p.(Glu493Lys), p.(Glu229Lys), p.(Glu450Lys), p.(Glu421Lys)
22 Parent #2 ?/? g.29091238T>A - CHEK2_000001 rs863224747 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1389-8A>T, NM_001257387.1:c.597-8A>T, NM_007194.3:c.1260-8A>T, NM_145862.2:c.1173-8A>T r.(=) p.(=)
Legend