Individual #00016341

Reference -
Gender F
Geographic origin Pontus
Geographic origin Crete
Population Greek
Consanguinity no
Remarks -
Panel ID 00016340
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     
0000008380 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000082 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.47702459T>G - MSH2_000007 - - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+50T>G, NM_001258281.1:c.1807+50T>G r.(=) p.(=)
2 Parent #2 ?/? g.190719198A>C - PMS1_000008 - - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1200A>C, NM_001128143.1:c.1083A>C, NM_001128144.1:c.1200A>C r.(=) p.(=)
3 Parent #2 -?/-? g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1891-30G>C r.(=) p.(=)
3 Parent #2 -/- g.52439240T>C - BAP1_000002 rs28997577 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1002A>G r.(=) p.(=)
3 Parent #2 -?/-? g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.660-26T>A r.(=) p.(=)
5 Parent #2 ?/? g.112173843G>T - APC_000012 rs1554084260 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.2552G>T, NM_001127510.2:c.2552G>T, NM_001127511.2:c.2498G>T r.(?) p.(Ser851Ile), p.(Ser833Ile)
8 Parent #2 ?/? g.145737373C>T - RECQL4_000021 rs36078464 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3315G>A - p.?
8 Parent #2 ?/? g.145741153C>G - RECQL4_000024 rs548957135 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1253G>C - p.?
9 Parent #2 ?/? g.98002890A>G - FANCC_000004 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.345+41T>C, NM_001243743.1:c.345+41T>C, NM_001243744.1:c.345+41T>C r.(=) p.(=)
11 Parent #2 ?/? g.67254459C>T - AIP_000007 rs202156895 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.100-18C>T r.(=) p.(=)
11 Parent #2 ?/? g.108202151T>G - ATM_000013 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7516-20T>G r.(=) p.(=)
13 Parent #2 ?/? g.32912935_32912936insGAAACA - BRCA2_000001 rs863224826 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4443_4444insGAAACA r.(?) p.(Glu1482_Thr1483dup)
13 Both (homozygous) ?/? g.103504420G>A - ERCC5_000011 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.89-48G>A r.(=) p.(=)
13 Parent #2 ?/? g.103528027A>G - ERCC5_000004 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.3335A>G r.(?) p.(Asn1112Ser)
17 Parent #2 ?/? g.29562897G>A - NF1_000051 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3871-39G>A, NM_001042492.2:c.3871-39G>A r.(=) p.(=)
Legend