Individual #00017867

Reference -
Gender F
Geographic origin Thesprotia
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     
0000010654 51y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001987 DNA SEQ-NG-I 1 - 21 Despoina Kalfakakou



Variants

21 entries on 1 page. Showing entries 1 - 21.
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     
4 Parent #2 ./. g.100239360C>A - chr4_000007 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.6042143G>T - PMS2_000043 rs36038802 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.478C>A r.(?) p.(Gln160Lys)
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.66453515C>A - SBDS_000009 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
8 Parent #2 ?/? g.145738644C>T - RECQL4_000070 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
8 Parent #2 -?/-? g.145739405G>A - RECQL4_000203 rs1060504209 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1965C>T - p.?
9 Parent #2 -?/-? g.135772977G>A - TSC1_000001 rs118203720 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2646C>T, NM_001162426.1:c.2643C>T, NM_001162427.1:c.2493C>T r.(=) p.(=)
12 Parent #2 ?/? g.121437215C>T - HNF1A_000008 rs201167179 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1623+23C>T r.(=) p.(=)
13 Parent #2 ./. g.35252846C>A - chr13_000002 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -/- g.2106725C>G - TSC2_000043 rs45473698 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.729C>G, NM_001077183.1:c.729C>G, NM_001114382.1:c.729C>G r.(=) p.(=)
16 Parent #2 ?/? g.3659004G>C - SLX4_000152 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.-39C>G r.(=) p.(=)
17 Parent #2 ?/? g.29556201C>T - NF1_000074 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>T, NM_001042492.2:c.2568C>T r.(=) p.(=)
17 Parent #2 ?/? g.29560004T>C - NF1_000284 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3497-16T>C, NM_001042492.2:c.3497-16T>C r.(=) p.(=)
17 Parent #2 ?/? g.29560005G>A - NF1_000285 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3497-15G>A, NM_001042492.2:c.3497-15G>A r.(=) p.(=)
17 Parent #2 -?/-? g.29677187C>T - NF1_000279 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7259-14C>T, NM_001042492.2:c.7322-14C>T r.(=) p.(=)
19 Parent #2 ?/? g.45871993T>C - ERCC2_000111 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.255A>G, NM_001130867.1:c.183A>G r.(=) p.(=)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 ?/? g.24134094G>A - SMARCB1_000024 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.205+40G>A, NM_003073.3:c.232+13G>A r.(=) p.(=)
22 Parent #2 ?/? g.29085139G>A - CHEK2_000037 rs587782541 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1655C>T, NM_001257387.1:c.863C>T, NM_007194.3:c.1526C>T, NM_145862.2:c.1439C>T r.(?) p.(Pro552Leu), p.(Pro288Leu), p.(Pro509Leu), p.(Pro480Leu)
22 Parent #2 ?/? g.29091142C>T - CHEK2_000016  rs1555913429 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1477G>A, NM_001257387.1:c.685G>A, NM_007194.3:c.1348G>A, NM_145862.2:c.1261G>A r.(?) p.(Glu493Lys), p.(Glu229Lys), p.(Glu450Lys), p.(Glu421Lys)
X Parent #2 ?/? g.132826549A>G - GPC3_000002 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1236-27T>C, NM_001164618.1:c.1119-27T>C, NM_001164619.1:c.1005-27T>C, NM_004484.3:c.1167-27T>C r.(=) p.(=)
Legend