Individual #00017589

Reference -
Gender F
Geographic origin Korakovouni, Arcadia
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     
0000010109 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001258 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     
1 Parent #2 -?/-? g.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
3 Parent #2 ?/? g.14219932G>C - XPC_000010 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.103+34C>G, NM_004628.4:c.103+34C>G r.(=) p.(=)
5 Parent #2 ./. g.1342751A>C - chr5_000006 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.119123325G>C - EXT1_000001 - - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.-40C>G r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 -/- g.97912307T>A - FANCC_000001 rs1800365 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
10 Parent #2 ./. g.64580540T>A - chr10_000010 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ?/? g.88649865C>G - BMPR1A_000029 rs1021443408 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.114C>G r.(?) p.(Asp38Glu)
10 Parent #2 -?/-? g.88649899T>C - BMPR1A_000030 rs964544915 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.148T>C r.(=) p.(=)
11 Parent #2 ?/? g.95561144G>T - CEP57_000009 rs201285476 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.1053G>T, NM_001243777.1:c.1002G>T, NM_014679.4:c.1080G>T r.(?) p.(Leu351Phe), p.(Leu334Phe), p.(Leu360Phe)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
17 Parent #2 ./. g.36101206T>C - chr17_000006 - - - - - - - Despoina Kalfakakou - - - -
Legend