Individual #00017287

Reference -
Gender F
Geographic origin Kalamata
Geographic origin Constantinople
Population Greek
Consanguinity no
Remarks -
Panel size 5
Diseases BrCa, CRC
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     
0000009713 49y - - - - Despoina Kalfakakou
0000009714 61y - - - - 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     
0000009715 67y - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000957 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou



Variants

19 entries on 1 page. Showing entries 1 - 19.
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.241672023T>C - FH_000033 - - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.618A>G r.(=) p.(=)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
6 Parent #2 ./. g.160833647A>G - chr6_000027 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55260565G>A - EGFR_000053 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2701+31G>A r.(=) p.(=)
8 Parent #2 ?/? g.90965597A>T - NBN_000008 rs142334798 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1720T>A r.(?) p.(Leu574Ile)
10 Parent #2 ./. g.123337366C>T - chr10_000007 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ?/? g.45605580G>C - FANCM_000069 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.346G>C r.(?) p.(Gly116Arg)
15 Parent #2 ./. g.46639809del - chr15_000021 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.89817386A>T - FANCI_000026 rs145864790 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.976-13A>T, NM_018193.2:c.976-13A>T r.(=) p.(=)
15 Parent #2 ?/? g.89828482A>C - FANCI_000020 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1821+33A>C, NM_018193.2:c.1821+33A>C r.(=) p.(=)
15 Parent #2 -/- g.89835937A>G - FANCI_000005 rs139814895 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2011A>G, NM_018193.2:c.2011A>G r.(?) p.(Ile671Val)
15 Parent #2 -/- g.89838293A>C - FANCI_000011 rs118031800 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2604A>C, NM_018193.2:c.2456+1065A>C r.(?), r.(=) p.(Glu868Asp), p.(=)
15 Parent #2 ?/? g.89848645_89848646insT - FANCI_000015 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3255+5_3255+6insT, NM_018193.2:c.3075+5_3075+6insT r.(=) p.(=)
16 Parent #2 -/- g.2103368C>T - TSC2_000084 rs35660529 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.251C>T, NM_001077183.1:c.251C>T, NM_001114382.1:c.251C>T r.(?) p.(Ala84Val)
16 Parent #2 ?/? g.2105557C>T - TSC2_000153 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.599+37C>T, NM_001077183.1:c.599+37C>T, NM_001114382.1:c.599+37C>T r.(=) p.(=)
16 Parent #2 +/+ g.23619279G>A - PALB2_000024 rs587776527 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.3256C>T r.(?) p.(Arg1086*)
16 Parent #2 -/- g.68855966G>A - CDH1_000014 rs35187787 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1774G>A r.(?) p.(Ala592Thr)
16 Parent #2 ?/? g.89805745T>A - FANCA_000118 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4011-48A>T r.(=) p.(=)
16 Parent #2 -?/-? g.89882965C>T - FANCA_000111 rs376307136 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.59G>A, NM_001018112.1:c.59G>A r.(?) p.(Arg20Lys)
Legend