Individual #00016775

Reference -
Gender F
Geographic origin Platanos, Kissamos, Chania
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000009019 52y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000470 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou



Variants

19 entries on 1 page. Showing entries 1 - 19.
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     
3 Parent #2 ?/? g.10085280A>G - FANCD2_000044 rs664233 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1098+4A>G, NM_033084.3:c.1098+4A>G r.spl? p.?
3 Parent #2 ?/? g.10103821T>A - FANCD2_000060 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1767-14T>A, NM_033084.3:c.1767-14T>A r.(=) p.(=)
3 Parent #2 ?/? g.10114944A>C - FANCD2_000055 rs56041034 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2613A>C, NM_033084.3:c.2613A>C r.(?) p.(Lys871Asn)
7 Parent #2 -?/-? g.6022574T>C - PMS2_000044 rs786202005 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2055A>G r.(=) p.(=)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-43T>C r.(=) p.(=)
7 Parent #2 ?/? g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.251-11C>G r.(=) p.(=)
7 Parent #2 ?/? g.66453508A>T - SBDS_000010 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-22T>A r.(=) p.(=)
7 Parent #2 ?/? g.66453515C>A - SBDS_000009 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
10 Parent #2 -?/-? g.104353395C>T - SUFU_000004 rs149513330 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.600C>T, NM_016169.3:c.600C>T r.(=) p.(=)
11 Parent #2 ?/? g.108200922C>A - ATM_000085 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7308-19C>A r.(=) p.(=)
13 Parent #2 ?/? g.103498672C>T - ERCC5_000012 rs34291397 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.56C>T r.(?) p.(Pro19Leu)
17 Parent #2 -?/-? g.29552243G>A - NF1_000146 rs151138158 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1976G>A, NM_001042492.2:c.1976G>A, NM_001128147.2:c.*3235G>A r.(?), r.(=) p.(Arg659Gln), p.(=)
17 Parent #2 ?/? g.29557281T>C - NF1_000132 rs1188437940 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2994T>C, NM_001042492.2:c.2994T>C r.(=) p.(=)
17 Parent #2 ?/? g.29557285C>T - NF1_000133 rs367684252 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2998C>T, NM_001042492.2:c.2998C>T r.(?) p.(Arg1000Cys)
17 Parent #2 ?/? g.29562815A>G - NF1_000138 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3870+25A>G, NM_001042492.2:c.3870+25A>G r.(=) p.(=)
17 Parent #2 ?/? g.29587402A>G - NF1_000035 rs876658776 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4383A>G, NM_001042492.2:c.4446A>G r.(?) p.(Ile1461Met), p.(Ile1482Met)
17 Parent #2 +/+ g.41197795del - BRCA1_000023 rs80357582 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5492del, NM_007297.3:c.5351del, NM_007298.3:c.2180del, NM_007299.3:c.*6del, NM_007300.3:c.5555del r.(?), r.(=) p.(Pro1831Leufs*3), p.(Pro1784Leufs*3), p.(Pro727Leufs*3), p.(=), p.(Pro1852Leufs*3)
19 Parent #2 ./. g.47207685G>C - chr19_000002 - - - - - - - Despoina Kalfakakou - - - -
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