Individual #00016917

Reference -
Gender F
Geographic origin Heraklion
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
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     
0000009202 34y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000674 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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     
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
5 Parent #2 ?/? g.112175240G>C - APC_000031 rs1801166 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3949G>C, NM_001127510.2:c.3949G>C, NM_001127511.2:c.3895G>C r.(?) p.(Glu1317Gln), p.(Glu1299Gln)
5 Parent #2 -/- g.112176556G>A - APC_000006 rs34506289 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5265G>A, NM_001127510.2:c.5265G>A, NM_001127511.2:c.5211G>A r.(=) p.(=)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
7 Parent #2 ?/? g.55273306C>T - EGFR_000011 rs35918369 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3629C>T r.(?) p.(Ala1210Val)
8 Parent #2 ?/? g.30938368T>A - WRN_000064 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.840-15T>A r.(=) p.(=)
9 Parent #2 -/- g.97912307T>A - FANCC_000001 rs1800365 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
12 Parent #2 ?/? g.121438923C>A - HNF1A_000025 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1824C>A r.(?) p.(Ser608Arg)
16 Parent #2 ?/? g.2112651_2112654del - TSC2_000094 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1361+50_1361+53del, NM_001077183.1:c.1361+50_1361+53del, NM_001114382.1:c.1361+50_1361+53del r.(=) p.(=)
16 Parent #2 ?/? g.89865551G>C - FANCA_000085 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.893+23C>G, NM_001018112.1:c.893+23C>G r.(=) p.(=)
17 Parent #2 -/- g.41256101_41256103del - BRCA1_000065 - - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.441+36_441+38del, NM_007297.3:c.300+36_300+38del, NM_007298.3:c.441+36_441+38del, NM_007299.3:c.441+36_441+38del, NM_007300.3:c.441+36_441+38del r.(=) p.(=)
17 Parent #2 ?/? g.59885786T>G - BRIP1_000003 - - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.918+42A>C r.(=) p.(=)
17 Parent #2 -?/-? g.59924572G>A - BRIP1_000005 rs4988345 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.517C>T r.(?) p.(Arg173Cys)
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