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     

BRCA/FH     

Subtype     

Owner     
0000009254 27y - - - - 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.
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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.48027755T>C - MSH6_000008 rs2020912 - Germline - - - - 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 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.(=)
11 Parent #2 -/- g.108127089A>C - ATM_000042 rs3218692 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2250+22A>C r.(=) p.(=)
11 Parent #2 -/- g.108127101A>C - ATM_000043 rs3218705 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2250+34A>C r.(=) p.(=)
13 Parent #2 -/- g.32906766C>T - BRCA2_000031 rs41293475 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1151C>T r.(?) p.(Ser384Phe)
16 Parent #2 -?/-? g.2127724G>C - TSC2_000022 rs397515306 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.77A>G, NM_152633.2:c.77A>G r.(?) p.(Gln26Arg)
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