Individual #00016906

Reference -
Gender F
Geographic origin Pontus
Geographic origin Samos
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     
0000009188 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000657 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     
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A 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.(=)
5 Parent #2 ?/? g.112162779T>G - APC_000024 rs9282598 - Germline - - - - 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.(=)
11 Parent #2 -?/-? g.67256743G>A - AIP_000017 rs774293360 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.285G>A r.(=) p.(=)
13 Parent #2 ./. g.35252846C>A - chr13_000002 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.2123019_2123033del - TSC2_000120 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2355+35_2355+49del, NM_001077183.1:c.2355+35_2355+49del, NM_001114382.1:c.2355+35_2355+49del r.(=) p.(=)
16 Parent #2 -?/-? g.3656525C>T - SLX4_000040  rs138615800 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.710G>A r.(?) p.(Arg237Gln)
16 Parent #2 ?/? g.68857277C>A - CDH1_000001 - - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1937-25C>A r.(=) p.(=)
17 Parent #2 -?/-? g.17122436C>T - FLCN_000021  rs143483053 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*2257G>A, NM_144997.5:c.959G>A r.(=), r.(?) p.(=), p.(Arg320Gln)
17 Parent #2 -?/-? g.29663820C>T - NF1_000186 rs145732909 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6252C>T, NM_001042492.2:c.6315C>T r.(=) p.(=)
17 Parent #2 +/+ g.41197754dup - BRCA1_000070 rs397509294 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5533dup, NM_007297.3:c.5392dup, NM_007298.3:c.2221dup, NM_007299.3:c.*47dup, NM_007300.3:c.5596dup r.(?), r.(=) p.(Tyr1845Leufs*35), p.(Tyr1798Leufs*35), p.(Tyr741Leufs*35), p.(=), p.(Tyr1866Leufs*35)
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