Individual #00017567

Reference -
Gender F
Geographic origin Sfakia
Geographic origin Chania
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     
0000010073 39y - - - - Despoina Kalfakakou
0000010074 31y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001242 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.222045423C>G - chr1_000003 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 -/- g.48018275A>G - MSH6_000013 rs1800933 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
3 Parent #2 ?/? g.14190217C>G - XPC_000051 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2154G>C, NM_004628.4:c.2265G>C r.(?) p.(Glu718Asp), p.(Glu755Asp)
3 Parent #2 -/- g.37061893T>C - MLH1_000017 rs63751049 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.977T>C, NM_001167617.1:c.683T>C, NM_001167618.1:c.254T>C, NM_001167619.1:c.254T>C, NM_001258271.1:c.977T>C, NM_001258273.1:c.254T>C, NM_001258274.1:c.254T>C r.(?) p.(Val326Ala), p.(Val228Ala), p.(Val85Ala)
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.55595648C>A - KIT_000046 rs775274159 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2138C>A, NM_001093772.1:c.2126C>A r.(?) p.(Ser713Tyr), p.(Ser709Tyr)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
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.47236746G>A - DDB2_000007 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.59G>A r.(?) p.(Arg20Lys)
13 Parent #2 ?/? g.103528028T>C - ERCC5_000031 rs113688496 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.3336T>C r.(=) p.(=)
16 Parent #2 -?/-? g.2134495C>T - TSC2_000211 rs371541319 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4272C>T, NM_001077183.1:c.4071C>T, NM_001114382.1:c.4203C>T r.(=) p.(=)
16 Parent #2 -?/-? g.14038658A>G - ERCC4_000029 rs373237850 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1983A>G r.(=) p.(=)
16 Parent #2 -/- g.89811409C>T - FANCA_000145 rs138013482 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3584G>A r.(?) p.(Arg1195Gln)
22 Parent #2 ?/? g.29130520C>T - CHEK2_000035 rs141568342 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.190G>A, NM_001257387.1:c.-588G>A, NM_007194.3:c.190G>A, NM_145862.2:c.190G>A r.(=), r.(?) p.(=), p.(Glu64Lys)
Legend