Individual #00016213

Reference -
Gender F
Geographic origin Athens
Geographic origin Pyrgos, Elis
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     
0000008191 38y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000038 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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     
2 Parent #2 ?/? g.29606656G>A - ALK_000013 rs762116571 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1224C>T r.(=) p.(=)
2 Parent #2 -?/-? g.128051676G>A - ERCC3_000008 rs184301749 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.-19C>T r.(=) p.(=)
3 Parent #2 -/- g.10094159A>G - FANCD2_000019 rs145522204 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1634A>G, NM_033084.3:c.1634A>G r.(?) p.(Asn545Ser)
3 Parent #2 ?/? g.14200002C>T - XPC_000003 rs754197041 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1270G>A, NM_004628.4:c.1381G>A r.(?) p.(Glu424Lys), p.(Glu461Lys)
7 Parent #2 ?/? g.6042146C>T - PMS2_000010 rs142416537 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.475G>A r.(?) p.(Val159Met)
7 Parent #2 ?/? g.148504687T>C - EZH2_000001 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.*51A>G, NM_001203248.1:c.*51A>G, NM_001203249.1:c.*51A>G, NM_004456.4:c.*51A>G, NM_152998.2:c.*51A>G r.(=) p.(=)
8 Parent #2 ?/? g.145739505G>A - RECQL4_000014 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1879-14C>T - p.?
9 Parent #2 ./. g.863682A>C - chr9_000004 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.64574727C>T - MEN1_000006 - - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.799-36G>A, NM_130799.2:c.784-36G>A, NM_130800.2:c.799-36G>A, NM_130801.2:c.799-36G>A, NM_130802.2:c.799-36G>A, NM_130803.2:c.799-36G>A, NM_130804.2:c.799-36G>A r.(=) p.(=)
13 Parent #2 -?/-? g.32910666A>G - BRCA2_000035 - - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2174A>G r.(?) p.(Lys725Arg)
15 Parent #1 ?/? g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+42_975+43insG, NM_018193.2:c.975+42_975+43insG r.(=) p.(=)
15 Parent #2 ?/? g.89816743_89816744del - FANCI_000025 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+43_975+44del, NM_018193.2:c.975+43_975+44del r.(=) p.(=)
15 Parent #2 ?/? g.89836011A>G - FANCI_000006 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2085A>G, NM_018193.2:c.2085A>G r.(=) p.(=)
16 Parent #2 ?/? g.2136907G>T - TSC2_000031 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4989+35G>T, NM_001077183.1:c.4788+35G>T, NM_001114382.1:c.4920+35G>T r.(=) p.(=)
16 Parent #2 ?/? g.3639115C>T - SLX4_000014 rs1423670990 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4524G>A r.(=) p.(=)
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