Individual #00016448

Reference -
Gender F
Geographic origin Pontus
Geographic origin Evia
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     
0000008534 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000173 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
8 Parent #2 ?/? g.30915988A>G - WRN_000048 rs757791580 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.25A>G r.(?) p.(Thr9Ala)
8 Parent #2 ?/? g.30954377A>G - WRN_000042 rs189999761 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1981+11A>G r.(=) p.(=)
8 Parent #2 ?/? g.30982167G>A - WRN_000032 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2732+28G>A r.(=) p.(=)
16 Parent #2 ?/? g.2120419C>T - TSC2_000049 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1717-38C>T, NM_001077183.1:c.1717-38C>T, NM_001114382.1:c.1717-38C>T r.(=) p.(=)
16 Parent #2 ?/? g.3658568G>A - SLX4_000025 rs373586019 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.398C>T r.(?) p.(Pro133Leu)
16 Parent #2 ?/? g.14041870C>T - ERCC4_000006 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2417C>T r.(?) p.(Pro806Leu)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 -/- g.68845646G>A - CDH1_000011 rs142822590 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.892G>A r.(?) p.(Ala298Thr)
16 Parent #2 -?/-? g.68853297G>C - CDH1_000013  rs35741240 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1680G>C r.(=) p.(=)
17 Parent #2 +/+ g.41197795del - BRCA1_000023 rs80357582 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5492del, NM_007297.3:c.5351del, NM_007298.3:c.2180del, NM_007299.3:c.*6del, NM_007300.3:c.5555del r.(?), r.(=) p.(Pro1831Leufs*3), p.(Pro1784Leufs*3), p.(Pro727Leufs*3), p.(=), p.(Pro1852Leufs*3)
22 Parent #2 ?/? g.24143308C>T - SMARCB1_000005 rs62642539 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.473+40C>T, NM_003073.3:c.500+40C>T r.(=) p.(=)
Legend