Individual #00017268

Reference -
Gender F
Geographic origin Izmir
Geographic origin Kos
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, SkCa
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     
0000009679 70y - - - - Despoina Kalfakakou

Skin Cancer (SkCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009680 46y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000936 DNA SEQ-NG-I 1 - 20 Despoina Kalfakakou



Variants

20 entries on 1 page. Showing entries 1 - 20.
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.161326475C>T - SDHC_000018 rs942160050 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5644C>T, NM_001035512.1:c.148C>T, NM_001035513.1:c.91C>T, NM_001278172.1:c.140-5644C>T, NM_003001.3:c.250C>T r.(=), r.(?) p.(=), p.(Leu50Phe), p.(Leu31Phe), p.(Leu84Phe)
1 Parent #2 ?/? g.161326488C>A - SDHC_000019  rs778212096 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5631C>A, NM_001035512.1:c.161C>A, NM_001035513.1:c.104C>A, NM_001278172.1:c.140-5631C>A, NM_003001.3:c.263C>A r.(=), r.(?) p.(=), p.(Ser54*), p.(Ser35*), p.(Ser88*)
1 Parent #2 ?/? g.161326498A>G - SDHC_000012 - - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5621A>G, NM_001035512.1:c.171A>G, NM_001035513.1:c.114A>G, NM_001278172.1:c.140-5621A>G, NM_003001.3:c.273A>G r.(=) p.(=)
1 Parent #2 ?/? g.161326520T>A - SDHC_000013 rs760678574 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5599T>A, NM_001035512.1:c.193T>A, NM_001035513.1:c.136T>A, NM_001278172.1:c.140-5599T>A, NM_003001.3:c.295T>A r.(=), r.(?) p.(=), p.(Tyr65Asn), p.(Tyr46Asn), p.(Tyr99Asn)
1 Parent #2 ?/? g.161326531T>C - SDHC_000014 rs11547241 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5588T>C, NM_001035512.1:c.204T>C, NM_001035513.1:c.147T>C, NM_001278172.1:c.140-5588T>C, NM_003001.3:c.306T>C r.(=) p.(=)
1 Parent #2 ?/? g.161326532G>C - SDHC_000015 - - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5587G>C, NM_001035512.1:c.205G>C, NM_001035513.1:c.148G>C, NM_001278172.1:c.140-5587G>C, NM_003001.3:c.307G>C r.(=), r.(?) p.(=), p.(Val69Leu), p.(Val50Leu), p.(Val103Leu)
1 Parent #2 ?/? g.161326564C>T - SDHC_000016 - - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5555C>T, NM_001035512.1:c.237C>T, NM_001035513.1:c.180C>T, NM_001278172.1:c.140-5555C>T, NM_003001.3:c.339C>T r.(=) p.(=)
1 Parent #2 -/- g.161326566A>T - SDHC_000017  rs386833413 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5553A>T, NM_001035512.1:c.239A>T, NM_001035513.1:c.182A>T, NM_001278172.1:c.140-5553A>T, NM_003001.3:c.341A>T r.(=), r.(?) p.(=), p.(His80Leu), p.(His61Leu), p.(His114Leu)
2 Parent #2 ?/? g.48027514C>G - MSH6_000052 rs587779238 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2392C>G, NM_001281492.1:c.2002C>G, NM_001281493.1:c.1486C>G, NM_001281494.1:c.1486C>G r.(?) p.(Leu798Val), p.(Leu668Val), p.(Leu496Val)
8 Parent #2 ?/? g.145738644C>T - RECQL4_000070 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
9 Parent #2 ?/? g.135787731C>T - TSC1_000041 rs151309813 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.851G>A, NM_001162426.1:c.851G>A, NM_001162427.1:c.698G>A r.(?) p.(Arg284His), p.(Arg233His)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 -?/-? g.32972673C>T - BRCA2_000143 rs113507014 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10023C>T r.(=) p.(=)
16 Parent #2 ./. g.89986130T>C - chr16_000005 rs1110400 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.25541317C>T - chr17_000002 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 +/+ g.56787223C>T - RAD51C_000022 rs770637624 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.709C>T r.(?) p.(Arg237*)
17 Parent #2 ?/? g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
22 Parent #2 ?/? g.24143308C>T - SMARCB1_000005 rs62642539 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.473+40C>T, NM_003073.3:c.500+40C>T r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
22 Parent #2 -?/-? g.29091178C>A - CHEK2_000012 rs200050883 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1441G>T, NM_001257387.1:c.649G>T, NM_007194.3:c.1312G>T, NM_145862.2:c.1225G>T r.(?) p.(Asp481Tyr), p.(Asp217Tyr), p.(Asp438Tyr), p.(Asp409Tyr)
Legend