Individual #00017213

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     
0000009584 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000872 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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     
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
7 Parent #2 ?/? g.116409691del - MET_000012 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.2584-8del, NM_001127500.1:c.2638-8del r.(=) p.(=)
8 Parent #2 ?/? g.145738999A>T - RECQL4_000122 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2156T>A - p.?
9 Parent #2 -/- g.98209458G>A - PTCH1_000050 rs62637631 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4080C>T, NM_001083602.1:c.3882C>T, NM_001083603.1:c.4077C>T, NM_001083604.1:c.3627C>T, NM_001083605.1:c.3627C>T, NM_001083606.1:c.3627C>T, NM_001083607.1:c.3627C>T r.(=) p.(=)
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
10 Parent #2 ./. g.64580550C>G - chr10_000003 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ?/? g.72358759G>A - PRF1_000026 rs754850577 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.718C>T, NM_005041.4:c.718C>T r.(?) p.(Arg240Cys)
11 Parent #2 ?/? g.32456784C>G - WT1_000005 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
11 Parent #2 ?/? g.95552112G>A - CEP57_000018 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.672+44G>A, NM_001243777.1:c.699+44G>A, NM_014679.4:c.699+44G>A r.(=) p.(=)
15 Parent #2 ?/? g.89844526A>G - FANCI_000069 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2890-31A>G, NM_018193.2:c.2710-31A>G r.(=) p.(=)
15 Parent #2 +/+ g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1642C>T r.(?) p.(Gln548*)
15 Parent #2 -?/-? g.91308570C>T - BLM_000015 rs146077918 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2119C>T r.(?) p.(Pro707Ser)
16 Parent #2 ?/? g.3644413A>G - SLX4_000082 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2160+41T>C r.(=) p.(=)
16 Parent #2 -?/-? g.89845393G>A - FANCA_000103 rs762647468 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1734C>T r.(=) p.(=)
22 Parent #2 ?/? g.24143298G>A - SMARCB1_000011 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.473+30G>A, NM_003073.3:c.500+30G>A r.(=) p.(=)
X Parent #2 ?/? g.132833931G>A - GPC3_000013 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1227C>T, NM_001164618.1:c.1110C>T, NM_001164619.1:c.996C>T, NM_004484.3:c.1158C>T r.(=) p.(=)
Legend