Individual #00016960

Reference -
Gender F
Geographic origin Managouli, Phocis
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     
0000009254 27y - - Ductal In Situ N/A N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000730 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
2 Parent #2 ./. g.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
3 Parent #1 ./. 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.(=)
3 Parent #2 ./. g.37067095_37067102del - MLH1_000024 - - - - - - - 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.(=)
11 Parent #2 ./. g.108127089A>C - ATM_000042 rs3218692 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2250+22A>C r.(=) p.(=)
11 Parent #2 ./. g.108127101A>C - ATM_000043 rs3218705 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2250+34A>C r.(=) p.(=)
13 Parent #2 ./. g.32906766C>T - BRCA2_000031 rs41293475 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1151C>T r.(?) p.(Ser384Phe)
16 Parent #2 ./. g.2127724G>C - TSC2_000022 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2963G>C, NM_001077183.1:c.2837+1138G>C, NM_001114382.1:c.2963G>C r.(?), r.(=) p.(Arg988Pro), p.(=)
16 Parent #2 ./. g.50827612G>T - CYLD_000017 - - - - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2460+37G>T, NM_001042412.1:c.2460+37G>T, NM_015247.2:c.2469+37G>T r.(=) p.(=)
17 Parent #2 ./. g.29508420A>T - NF1_000192 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.587-20A>T, NM_001042492.2:c.587-20A>T, NM_001128147.2:c.587-20A>T r.(=) p.(=)
X Parent #2 ./. g.14883556T>C - FANCB_000019 - - - - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.77A>G, NM_152633.2:c.77A>G r.(?) p.(Gln26Arg)
Legend