Individual #00017281

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Evrytania
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     
0000009700 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000950 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.45798112G>A - MUTYH_000041 rs587782885 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.697C>T, NM_001048172.1:c.658C>T, NM_001048173.1:c.655C>T, NM_001048174.1:c.655C>T, NM_001128425.1:c.739C>T, NM_012222.2:c.730C>T r.(?) p.(Arg233*), p.(Arg220*), p.(Arg219*), p.(Arg247*), p.(Arg244*)
2 Parent #2 ?/? g.48010392T>G - MSH6_000055 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.20T>G, NM_001281492.1:c.20T>G, NM_001281493.1:c.-717T>G, NM_001281494.1:c.-1495T>G r.(?), r.(=) p.(Leu7Arg), p.(=)
2 Parent #2 -?/-? g.128050240G>A - ERCC3_000039 rs529637184 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.417C>T r.(=) p.(=)
3 Parent #2 ?/? g.14208789G>A - XPC_000017 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.426-36C>T, NM_004628.4:c.537-36C>T r.(=) p.(=)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
3 Parent #2 ./. g.169082678T>C - chr3_000002 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 ?/? g.31004843C>T - WRN_000014 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3460-37C>T r.(=) p.(=)
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
11 Parent #2 -?/-? g.108123551C>T - ATM_000024 rs2227922 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1810C>T r.(?) p.(Pro604Ser)
11 Parent #2 -?/-? g.108163382C>T - ATM_000005 rs4988008 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4473C>T r.(=) p.(=)
13 Parent #2 -?/-? g.32972744_32972745insGAATTATATC - BRCA2_000144 rs1064792995 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10094_10095insGAATTATATC r.(?) p.(Ser3366Asnfs*5)
13 Parent #2 -/- g.32972745C>T - BRCA2_000145 rs1060504607 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10095C>T r.(=) p.(=)
16 Parent #2 ?/? g.23619350A>C - PALB2_000044 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.3202-17T>G r.(=) p.(=)
16 Parent #2 ?/? g.89882442G>C - FANCA_000086 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-48C>G, NM_001018112.1:c.80-48C>G r.(=) p.(=)
17 Parent #2 -?/-? g.7579599G>A - TP53_000003 rs202217267 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.97-9C>T, NM_001126112.2:c.97-9C>T, NM_001126113.2:c.97-9C>T, NM_001126114.2:c.97-9C>T, NM_001126115.1:c.-1066C>T, NM_001126116.1:c.-1066C>T, NM_001126117.1:c.-1066C>T, NM_001126118.1:c.-21-9C>T, NM_001276695.1:c.-21-9C>T, NM_001276696.1:c.-21-9C>T, NM_001276697.1:c.-1147C>T, NM_001276698.1:c.-1147C>T, NM_001276699.1:c.-1147C>T, NM_001276760.1:c.-21-9C>T, NM_001276761.1:c.-21-9C>T r.(=) p.(=)
17 Parent #2 -/- g.41243725T>C - BRCA1_000047 rs80357280 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3823A>G, NM_007297.3:c.3682A>G, NM_007298.3:c.788-676A>G, NM_007299.3:c.788-676A>G, NM_007300.3:c.3823A>G r.(?), r.(=) p.(Ile1275Val), p.(Ile1228Val), p.(=)
17 Parent #2 ?/? g.66521034_66521035insT - PRKAR1A_000024 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.503-19_503-18insT, NM_001276290.1:c.503-19_503-18insT, NM_002734.4:c.503-19_503-18insT, NM_212471.2:c.503-19_503-18insT, NM_212472.2:c.503-19_503-18insT r.(=) p.(=)
22 Parent #2 ?/? g.24167468A>G - SMARCB1_000013 rs138735048 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.825A>G, NM_003073.3:c.852A>G r.(=) p.(=)
Legend