Individual #00016653

Reference -
Gender F
Geographic origin Mytilene
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008833 73y - - Ductal Invasive II N/A Negative Negative Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000321 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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.37067094_37067102del - MLH1_000003 - - - - - - - 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.(=)
5 Parent #2 ./. g.39394968G>T - chr5_000014 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112116457T>C - APC_000020 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.532-30T>C, NM_001127510.2:c.532-30T>C, NM_001127511.2:c.562-30T>C r.(=) p.(=)
5 Parent #2 ./. g.112151320A>G - APC_000022 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.933+30A>G, NM_001127510.2:c.933+30A>G, NM_001127511.2:c.879+30A>G r.(=) p.(=)
5 Parent #2 ./. g.112175240G>C - APC_000031 rs1801166 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3949G>C, NM_001127510.2:c.3949G>C, NM_001127511.2:c.3895G>C r.(?) p.(Glu1317Gln), p.(Glu1299Gln)
5 Parent #2 ./. g.112176556G>A - APC_000006 rs34506289 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5265G>A, NM_001127510.2:c.5265G>A, NM_001127511.2:c.5211G>A r.(=) p.(=)
8 Parent #2 ./. g.128517599G>A - chr8_000015 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108155240G>A - ATM_000063 rs3218709 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3993+40G>A r.(=) p.(=)
16 Parent #2 ./. g.2132528G>A - TSC2_000070 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3883+23G>A, NM_001077183.1:c.3682+729G>A, NM_001114382.1:c.3814+729G>A r.(=) p.(=)
16 Parent #2 ./. g.89809369A>C - FANCA_000035 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3627-23T>G r.(=) p.(=)
17 Parent #2 ./. g.59885856T>C - BRIP1_000013 rs28997570 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.890A>G r.(?) p.(Lys297Arg)
17 Parent #2 ./. g.66521131T>A - PRKAR1A_000003 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.549+32T>A, NM_001276290.1:c.549+32T>A, NM_002734.4:c.549+32T>A, NM_212471.2:c.549+32T>A, NM_212472.2:c.549+32T>A r.(=) p.(=)
22 Parent #2 ./. g.29121087A>G - CHEK2_000007 rs17879961 - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
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