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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009679 70y - - Ductal Invasive N/A N/A Positive Positive Negative - - - Despoina Kalfakakou

Skin Cancer (SkCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000009680 46y - - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000936 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     
1 Parent #2 ./. g.161326475C>T - SDHC_000018 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
9 Parent #2 ./. g.135787731C>T - TSC1_000041 - - - - - - - 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 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 ./. g.32972673C>T - BRCA2_000143 - - - - - - - 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.29585495A>G - NF1_000089 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4244A>G, NM_001042492.2:c.4307A>G r.(?) p.(Glu1415Gly), p.(Glu1436Gly)
17 Parent #2 ./. g.56787223C>T - RAD51C_000022 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.709C>T r.(?) p.(Arg237*)
17 Parent #2 ./. g.74473698C>A - RHBDF2_000003 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - - 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