Individual #00017564

Reference -
Gender F
Geographic origin Chalkidiki
Geographic origin Serres
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     
0000010069 36y - - - - Despoina Kalfakakou
0000010070 25y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001236 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
2 Parent #2 -?/-? g.233028241C>T - DIS3L2_000010 rs201122747 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1023C>T, NM_152383.4:c.1023C>T r.(=) p.(=)
2 Parent #2 ?/? g.233195514C>G - DIS3L2_000013 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
9 Parent #2 ./. g.5070882G>C - chr9_000010 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ?/? g.43572694G>A - RET_000047 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.-13G>A, NM_020975.4:c.-13G>A r.(=) p.(=)
10 Parent #2 ?/? g.88679060T>A - BMPR1A_000027 rs749873461 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1000T>A r.(?) p.(Leu334Met)
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
16 Parent #2 ?/? g.2103372C>T - TSC2_000039 rs45517098 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 -/- g.2138086C>A - TSC2_000033 rs45483700 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5106C>A, NM_001077183.1:c.4905C>A, NM_001114382.1:c.5037C>A r.(=) p.(=)
16 Parent #2 -?/-? g.89845197G>A - FANCA_000005 rs183513839 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
17 Parent #2 -?/-? g.41234565T>C - BRCA1_000105 rs80357353 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4213A>G, NM_007297.3:c.4072A>G, NM_007298.3:c.904A>G, NM_007299.3:c.904A>G, NM_007300.3:c.4213A>G r.(?) p.(Ile1405Val), p.(Ile1358Val), p.(Ile302Val)
22 Parent #2 ?/? g.29130426C>G - CHEK2_000052 rs750596499 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.284G>C, NM_001257387.1:c.-494G>C, NM_007194.3:c.284G>C, NM_145862.2:c.284G>C r.(=), r.(?) p.(=), p.(Arg95Pro)
X Parent #2 -?/-? g.14861834T>C - FANCB_000022 rs780116069 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.2435A>G, NM_152633.2:c.2435A>G r.(?) p.(Tyr812Cys)
Legend