Individual #00016261

Reference -
Gender F
Geographic origin -
Geographic origin -
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     
0000008258 49y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000048 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 -?/-? g.47698179A>G - MSH2_000003 rs61756467 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
8 Parent #2 -/- g.145739917T>C - RECQL4_000015 rs373357384 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-8A>G - p.?
11 Parent #2 ?/? g.108098614A>G - ATM_000019 rs876659407 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.184A>G r.(?) p.(Arg62Gly)
13 Parent #2 ?/? g.32920945T>C - BRCA2_000006 rs81002836 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6938-19T>C r.(=) p.(=)
13 Parent #2 ?/? g.32936865C>A - BRCA2_000008 rs181176701 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7976+35C>A r.(=) p.(=)
15 Parent #2 ?/? g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.446-32A>G, NM_018193.2:c.446-32A>G r.(=) p.(=)
15 Parent #2 ?/? g.91293194C>A - BLM_000020 rs201845548 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.696C>A r.(?) p.(Ser232Arg)
15 Parent #2 -/- g.91308512T>C - BLM_000014 rs28385026 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2075-14T>C r.(=) p.(=)
16 Parent #2 ?/? g.2128983C>T - TSC2_000023 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2967-50C>T, NM_001077183.1:c.2838-53C>T, NM_001114382.1:c.2967-50C>T r.(=) p.(=)
17 Parent #2 -?/-? g.7579825A>G - TP53_000004  rs184743157 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.74+14T>C, NM_001126112.2:c.74+14T>C, NM_001126113.2:c.74+14T>C, NM_001126114.2:c.74+14T>C, NM_001126115.1:c.-1292T>C, NM_001126116.1:c.-1292T>C, NM_001126117.1:c.-1292T>C, NM_001126118.1:c.-147T>C, NM_001276695.1:c.-44+14T>C, NM_001276696.1:c.-44+14T>C, NM_001276697.1:c.-1373T>C, NM_001276698.1:c.-1373T>C, NM_001276699.1:c.-1373T>C, NM_001276760.1:c.-44+14T>C, NM_001276761.1:c.-44+14T>C r.(=) p.(=)
17 Parent #2 -?/-? g.56772522G>A - RAD51C_000007 rs61758784 - Germline - - - - 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 rs193023469 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
X Parent #2 -/- g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1643-7_1643-4del, NM_001164618.1:c.1526-7_1526-4del, NM_001164619.1:c.1412-7_1412-4del, NM_004484.3:c.1574-7_1574-4del r.spl? p.?
Legend