Individual #00017834

Reference -
Gender F
Geographic origin Corinth
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     
0000010601 69y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001923 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     
2 Parent #2 ?/? g.29416833A>G - ALK_000029 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4165-45T>C r.(=) p.(=)
2 Parent #2 -?/-? g.190728895T>C - PMS1_000052 rs150341545 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2283T>C, NM_001128143.1:c.2166T>C, NM_001128144.1:c.1857-3630T>C r.(=) p.(=)
2 Parent #2 ?/? g.233195514C>G - DIS3L2_000013 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
3 Parent #2 -?/-? g.37067096_37067103del - MLH1_000058 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
4 Parent #2 ?/? g.55524280C>T - KIT_000027 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.67+32C>T, NM_001093772.1:c.67+32C>T r.(=) p.(=)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
9 Parent #2 -/- g.21994262G>A - CDKN2A_000023 rs374360796 - Germline - - - - Despoina Kalfakakou CDKN2A - NM_058195.3:c.69C>T r.(=) p.(=)
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)
10 Parent #2 -?/-? g.104359297G>T - SUFU_000001 rs34135067 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
11 Parent #2 -?/-? g.2906108C>T - CDKN1C_000021 rs794726872 - Germline - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.612G>A, NM_001122630.1:c.579G>A, NM_001122631.1:c.579G>A r.(=) p.(=)
11 Parent #2 ?/? g.64573162T>C - MEN1_000032 rs766075737 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1145A>G, NM_130799.2:c.1130A>G, NM_130800.2:c.1145A>G, NM_130801.2:c.1145A>G, NM_130802.2:c.1145A>G, NM_130803.2:c.1145A>G, NM_130804.2:c.1145A>G r.(?) p.(Lys382Arg), p.(Lys377Arg)
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.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 ?/? g.89842199C>T - FANCA_000188 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1851G>A r.(=) p.(=)
17 Parent #2 ?/? g.29556849T>A - NF1_000007 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2851-4T>A, NM_001042492.2:c.2851-4T>A r.spl? p.?
22 Parent #2 -?/-? g.29091178C>A - CHEK2_000012 rs200050883 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1441G>T, NM_001257387.1:c.649G>T, NM_007194.3:c.1312G>T, NM_145862.2:c.1225G>T r.(?) p.(Asp481Tyr), p.(Asp217Tyr), p.(Asp438Tyr), p.(Asp409Tyr)
Legend