Individual #00017850

Reference -
Gender F
Geographic origin Thessaloniki
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     
0000010629 38y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001969 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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.17354373_17354374insGAAGAA - SDHB_000010 - - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTCTTC r.(=) p.(=)
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)
7 Parent #2 ?/? g.116380867T>A - MET_000002 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ?/? g.116380868A>T - MET_000003 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
8 Parent #2 ?/? g.145737620T>C - RECQL4_000130 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3144A>G - p.?
8 Parent #2 ?/? g.145738596C>T - RECQL4_000207 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+5G>A r.spl? p.?
11 Parent #2 ?/? g.108160396A>C - ATM_000132 rs769980220 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4304A>C r.(?) p.(Lys1435Thr)
13 Parent #2 -/- g.48939088C>T - RB1_000086 rs183898408 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.920C>T r.(?) p.(Thr307Ile)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
16 Parent #2 -/- g.2134612C>T - TSC2_000299 rs1555514425 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4389C>T, NM_001077183.1:c.4188C>T, NM_001114382.1:c.4320C>T r.(=) p.(=)
16 Parent #2 ?/? g.89815201G>A - FANCA_000039 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ?/? g.89831482_89831483del - FANCA_000043 rs577636020 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
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