Individual #00017619

Reference -
Gender F
Geographic origin Turkey
Geographic origin Siatista, Kozani
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000011715 39y - - Ductal Invasive N/A N/A Negative Negative Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001513 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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_17354374insGAA - SDHB_000012 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTC r.(=) p.(=)
2 Parent #2 ./. g.47596602T>C - EPCAM_000033 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.-43T>C r.(=) p.(=)
2 Parent #2 ./. g.48032717T>A - MSH6_000003 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
3 Parent #2 ./. g.10091153C>T - FANCD2_000017 rs6785756 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
3 Parent #2 ./. g.10101998A>G - FANCD2_000046 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1677A>G, NM_033084.3:c.1677A>G r.(?) p.(Ile559Met)
3 Parent #2 ./. g.37067100del - MLH1_000061 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-28del, NM_001167617.1:c.745-28del, NM_001167618.1:c.316-28del, NM_001167619.1:c.316-28del, NM_001258271.1:c.1039-28del, NM_001258273.1:c.316-28del, NM_001258274.1:c.316-28del r.(=) p.(=)
3 Parent #1 ./. g.37067100_37067101insTTTTT - MLH1_000105 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-28_1039-27insTTTTT, NM_001167617.1:c.745-28_745-27insTTTTT, NM_001167618.1:c.316-28_316-27insTTTTT, NM_001167619.1:c.316-28_316-27insTTTTT, NM_001258271.1:c.1039-28_1039-27insTTTTT, NM_001258273.1:c.316-28_316-27insTTTTT, NM_001258274.1:c.316-28_316-27insTTTTT r.(=) p.(=)
10 Parent #2 ./. g.88679047A>C - BMPR1A_000034 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.987A>C r.(?) p.(Arg329Ser)
13 Parent #2 ./. g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ./. g.49047451A>G - RB1_000006 rs4151610 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
13 Parent #2 ./. g.49050826G>A - RB1_000001 rs4151624 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
16 Parent #2 ./. g.2103368C>T - TSC2_000084 rs35660529 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.251C>T, NM_001077183.1:c.251C>T, NM_001114382.1:c.251C>T r.(?) p.(Ala84Val)
16 Parent #2 ./. g.68835754G>A - CDH1_000006 rs1801023 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 ./. g.68845646G>A - CDH1_000011 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.892G>A r.(?) p.(Ala298Thr)
17 Parent #2 ./. g.29663615del - NF1_000253 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6085-38del, NM_001042492.2:c.6148-38del r.(=) p.(=)
17 Parent #1 ./. g.29663615dup - NF1_000252 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6085-38dup, NM_001042492.2:c.6148-38dup r.(=) p.(=)
22 Parent #2 ./. g.29092870C>T - CHEK2_000047 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1224+19G>A, NM_001257387.1:c.432+19G>A, NM_007194.3:c.1095+19G>A, NM_145862.2:c.1009-1009G>A r.(=) p.(=)
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