Individual #00016732

Reference -
Gender F
Geographic origin Messolonghi
Geographic origin Ioannina
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     
0000008954 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000389 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.45796272A>C - MUTYH_000023 rs376562869 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1435-43T>G, NM_001048172.1:c.1396-43T>G, NM_001048173.1:c.1393-43T>G, NM_001048174.1:c.1393-43T>G, NM_001128425.1:c.1477-43T>G, NM_012222.2:c.1468-43T>G r.(=) p.(=)
2 Parent #2 -?/-? g.30143420G>A - ALK_000027 rs201490095 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.106C>T r.(?) p.(Pro36Ser)
2 Parent #2 -?/-? g.48026997C>T - MSH6_000023 rs63749886 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.1875C>T, NM_001281492.1:c.1485C>T, NM_001281493.1:c.969C>T, NM_001281494.1:c.969C>T r.(=) p.(=)
7 Parent #2 ?/? g.6022617G>A - PMS2_000004 rs587780046 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2012C>T r.(?) p.(Thr671Met)
7 Parent #2 ?/? g.55238940C>G - EGFR_000030 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+34C>G, NM_201282.1:c.*2718C>G, NM_201284.1:c.*703C>G r.(=) p.(=)
8 Parent #2 ?/? g.30969170A>G - WRN_000009 rs180814740 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2128A>G r.(?) p.(Ile710Val)
8 Parent #2 ?/? g.145737211G>A - RECQL4_000020 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3395-39C>T - p.?
11 Parent #2 -?/-? g.108098592T>C - ATM_000018 rs3218690 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.162T>C r.(=) p.(=)
11 Parent #2 ?/? g.108124801A>G - ATM_000040 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2124+35A>G r.(=) p.(=)
11 Parent #2 ?/? g.108183175A>G - ATM_000070 rs876660935 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5956A>G r.(?) p.(Ile1986Val)
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
16 Parent #2 -?/-? g.2133703C>G - TSC2_000072 rs373508609 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3891C>G, NM_001077183.1:c.3690C>G, NM_001114382.1:c.3822C>G r.(=) p.(=)
16 Parent #2 ?/? g.89862351G>C - FANCA_000048 rs747408661 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.969C>G, NM_001018112.1:c.*3136C>G r.(=) p.(=)
16 Parent #2 ?/? g.89882407G>A - FANCA_000011 rs189841793 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
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