Individual #00016563

Reference -
Gender F
Geographic origin Arcadia
Geographic origin Karditsa
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     
0000008695 36y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou

Pancreatic cancer/melanoma syndrome (MPCS)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Histology     

Subtype     

Owner     
0000008696 36y - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000267 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.47643457G>T - MSH2_000016 rs4987188 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.965G>T, NM_001258281.1:c.767G>T r.(?) p.(Gly322Val), p.(Gly256Val)
7 Parent #2 ./. g.148523693C>A - EZH2_000008 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.760G>T, NM_001203248.1:c.733G>T, NM_001203249.1:c.733G>T, NM_004456.4:c.760G>T, NM_152998.2:c.643G>T r.(?) p.(Gly254Cys), p.(Gly245Cys), p.(Gly215Cys)
9 Parent #2 ./. g.21974756C>G - CDKN2A_000006 - - - - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.71G>C, NM_001195132.1:c.71G>C, NM_058195.3:c.194-3549G>C, NM_058197.4:c.71G>C r.(?), r.(=) p.(Arg24Pro), p.(=)
10 Parent #2 ./. g.21830115G>T - chr10_000006 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.72360577G>A - PRF1_000009 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.82C>T, NM_005041.4:c.82C>T r.(?) p.(Arg28Cys)
11 Parent #2 ./. g.32417962A>G - WT1_000001 rs5030274 - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.1048-9T>C, NM_001198551.1:c.463-9T>C, NM_001198552.1:c.412-9T>C, NM_024424.3:c.1099-9T>C, NM_024426.4:c.1099-9T>C r.(=) p.(=)
13 Parent #2 ./. g.49039095del - RB1_000023 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ./. g.49039095dup - RB1_000022 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
15 Parent #2 ./. g.89828320C>A - FANCI_000032 rs28446881 - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1699-7C>A, NM_018193.2:c.1699-7C>A r.(=) p.(=)
15 Parent #2 ./. g.89847054T>C - FANCI_000037 rs28517718 - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3007-41T>C, NM_018193.2:c.2827-41T>C r.(=) p.(=)
17 Parent #2 ./. g.29701202A>G - NF1_000064 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.*29A>G, NM_001042492.2:c.*29A>G r.(=) p.(=)
17 Parent #2 ./. g.56772522G>A - RAD51C_000007 rs61758784 - - - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 ./. g.56780540G>T - RAD51C_000004 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
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