Individual #00017158

Reference -
Gender F
Geographic origin Naxos
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     
0000009516 38y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000857 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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     
2 Parent #2 ./. g.128029057T>C - ERCC3_000011 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1828-28A>G r.(=) p.(=)
2 Parent #2 ./. g.232894775C>T - DIS3L2_000036 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.351C>T, NM_001257282.1:c.351C>T, NM_152383.4:c.351C>T r.(=) p.(=)
2 Parent #2 ./. g.233198606C>T - DIS3L2_000019 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9449C>T, NM_152383.4:c.2067C>T r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067102del - MLH1_000005 rs71831268 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
5 Parent #2 ./. g.112102084T>C - APC_000067 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.197T>C, NM_001127510.2:c.197T>C, NM_001127511.2:c.227T>C r.(?) p.(Ile66Thr), p.(Ile76Thr)
5 Parent #2 ./. g.112162779T>G - APC_000024 rs9282598 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.1409-26T>G, NM_001127510.2:c.1409-26T>G, NM_001127511.2:c.1355-26T>G r.(=) p.(=)
5 Parent #2 ./. g.112175211T>A - APC_000005 rs1801155 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3920T>A, NM_001127510.2:c.3920T>A, NM_001127511.2:c.3866T>A r.(?) p.(Ile1307Lys), p.(Ile1289Lys)
10 Parent #2 ./. g.43609136C>T - RET_000021 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1879+13C>T, NM_020975.4:c.1879+13C>T r.(=) p.(=)
11 Parent #2 ./. g.32417962A>G - WT1_000001 rs5030274 - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.1048-9T>C, NM_001198551.1:c.463-9T>C, NM_001198552.1:c.412-9T>C, NM_024424.3:c.1099-9T>C, NM_024426.4:c.1099-9T>C r.(=) p.(=)
11 Parent #2 ./. g.108150352T>C - ATM_000051 rs3092825 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+17T>C r.(=) p.(=)
13 Parent #2 ./. g.32914814C>T - BRCA2_000004 rs55794205 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6322C>T r.(?) p.(Arg2108Cys)
14 Parent #2 ./. g.45639981del - FANCM_000064 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2160+32del r.(=) p.(=)
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