Individual #00017258

Reference -
Gender F
Geographic origin Constantinople
Geographic origin Alexandria, Egypt
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     
0000009664 66y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000915 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.161293492del - SDHC_000011 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+32del, NM_001035512.1:c.77+32del, NM_001035513.1:c.20+9277del, NM_001278172.1:c.77+32del, NM_003001.3:c.77+32del r.(=) p.(=)
5 Parent #2 ./. g.1342751A>C - chr5_000006 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.145738410_145738411insGGTGCA - RECQL4_000103 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2575_2576insTGCACC - p.?
8 Parent #2 ./. g.145739817G>A - RECQL4_000108 rs35876881 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1704+9C>T - p.?
8 Parent #2 ./. g.145742850T>C - RECQL4_000100 rs35198096 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.161A>G - p.?
10 Parent #2 ./. g.88683209T>G - BMPR1A_000005 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1419T>G r.(=) p.(=)
11 Parent #2 ./. g.108139204G>A - ATM_000131 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2706G>A 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.(=)
16 Parent #2 ./. g.3632347T>C - SLX4_000011 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5501A>G r.(?) p.(Asn1834Ser)
16 Parent #2 ./. g.89815038G>A - FANCA_000026 rs1800348 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
16 Parent #2 ./. g.89838266G>C - FANCA_000110 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2015-44C>G r.(=) p.(=)
17 Parent #2 ./. g.41223167A>G - BRCA1_000084 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4764T>C, NM_007297.3:c.4623T>C, NM_007298.3:c.1452T>C, NM_007299.3:c.1452T>C, NM_007300.3:c.4827T>C r.(=) p.(=)
21 Parent #2 ./. g.36206858G>A - RUNX1_000004 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.573C>T, NM_001122607.1:c.573C>T, NM_001754.4:c.654C>T r.(=) p.(=)
Legend