Individual #00016482

Reference -
Gender F
Geographic origin Megalopoli, Arcadia
Geographic origin Chania
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000008579 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000202 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.17354373_17354374insGAAGAA - SDHB_000010 - - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTCTTC r.(=) p.(=)
3 Both (homozygous) -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
8 Parent #2 -/- g.145741888G>C - RECQL4_000051 rs35639991 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.615C>G - p.?
10 Parent #2 +/+ g.72358355C>T - PRF1_000018 rs104894176 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1122G>A, NM_005041.4:c.1122G>A r.(?) p.(Trp374*)
10 Parent #2 ?/? g.72358407C>T - PRF1_000019 rs140787739 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1070G>A, NM_005041.4:c.1070G>A r.(?) p.(Arg357Gln)
10 Parent #2 -?/-? g.72358722T>C - PRF1_000014 rs28933375 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
11 Parent #2 ?/? g.108150304A>T - ATM_000030 rs876660498 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3371A>T r.(?) p.(Tyr1124Phe)
13 Parent #2 -?/-? g.48939015C>A - RB1_000029 rs115108608 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.862-15C>A r.(=) p.(=)
16 Parent #2 ?/? g.2129157G>T - TSC2_000065 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3091G>T, NM_001077183.1:c.2959G>T, NM_001114382.1:c.3091G>T r.(?) p.(Ala1031Ser), p.(Ala987Ser)
17 Parent #2 ?/? g.41199638_41199639insA - BRCA1_000024 - - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5467+21_5467+22insT, NM_007297.3:c.5326+21_5326+22insT, NM_007298.3:c.2155+21_2155+22insT, NM_007299.3:c.2081+21_2081+22insT, NM_007300.3:c.5530+21_5530+22insT r.(=) p.(=)
22 Parent #2 -?/-? g.29091154T>C - CHEK2_000011 rs121908705 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1465A>G, NM_001257387.1:c.673A>G, NM_007194.3:c.1336A>G, NM_145862.2:c.1249A>G r.(?) p.(Asn489Asp), p.(Asn225Asp), p.(Asn446Asp), p.(Asn417Asp)
Legend