Individual #00016860

Reference -
Gender F
Geographic origin Thebes
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     
0000009127 43y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000594 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
Legend  

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     
6 Parent #2 ?/? g.35428344G>A - FANCE_000022 rs534777587 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1332G>A r.(=) p.(=)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
8 Parent #2 ?/? g.30948094_30948095del - WRN_000005 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1720+46_1720+47del r.(=) p.(=)
8 Parent #2 ?/? g.145739127G>A - RECQL4_000010 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108151707_108151708insTA - ATM_000093 rs1555091084 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insTA r.(=) p.(=)
11 Parent #2 ?/? g.108216661T>C - ATM_000096 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8584+26T>C r.(=) p.(=)
11 Parent #2 ?/? g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
13 Parent #2 -/- g.32913691C>T - BRCA2_000002 rs28897734 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5199C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5383C>T, NM_001077183.1:c.5182C>T, NM_001114382.1:c.5314C>T r.(?) p.(Arg1795Cys), p.(Arg1728Cys), p.(Arg1772Cys)
16 Parent #2 -?/-? g.89805495G>A - FANCA_000066 rs191404781 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4167+46C>T r.(=) p.(=)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend