Individual #00017077

Reference -
Gender F
Geographic origin Karditsa
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     
0000009416 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000802 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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     
1 Parent #2 -?/-? g.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
2 Parent #2 ?/? g.29473926C>A - ALK_000052 rs13405107 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2204+45G>T r.(=) p.(=)
2 Parent #2 ?/? g.47698123G>A - MSH2_000034 rs63750328 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1681G>A, NM_001258281.1:c.1483G>A r.(?) p.(Glu561Lys), p.(Glu495Lys)
3 Parent #2 ?/? g.14208787G>C - XPC_000016 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.426-34C>G, NM_004628.4:c.537-34C>G r.(=) p.(=)
3 Parent #2 -?/-? g.37067094_37067100del - MLH1_000013 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-28del, NM_001167617.1:c.745-34_745-28del, NM_001167618.1:c.316-34_316-28del, NM_001167619.1:c.316-34_316-28del, NM_001258271.1:c.1039-34_1039-28del, NM_001258273.1:c.316-34_316-28del, NM_001258274.1:c.316-34_316-28del r.(=) p.(=)
3 Parent #2 -?/-? g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1891-30G>C r.(=) p.(=)
3 Parent #2 -/- g.52439240T>C - BAP1_000002 rs28997577 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1002A>G r.(=) p.(=)
3 Parent #2 -?/-? g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.660-26T>A r.(=) p.(=)
8 Parent #2 ?/? g.31030472T>C - WRN_000039 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.4192-39T>C r.(=) p.(=)
8 Parent #2 ?/? g.145740673C>T - RECQL4_000064 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1390+37G>A - p.?
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
15 Parent #2 ?/? g.89807881C>A - FANCI_000063 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.755+43C>A, NM_018193.2:c.755+43C>A r.(=) p.(=)
16 Parent #2 -?/-? g.2112941C>G - TSC2_000011 rs45517166 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1362-32C>G, NM_001077183.1:c.1362-32C>G, NM_001114382.1:c.1362-32C>G r.(=) p.(=)
16 Parent #2 -?/-? g.3658774T>C - SLX4_000026 rs756720856 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.192A>G r.(=) p.(=)
16 Parent #2 -?/-? g.14041570T>C - ERCC4_000004 rs1800069 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2117T>C r.(?) p.(Ile706Thr)
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