Individual #00017919

Reference -
Gender F
Geographic origin Trikala
Geographic origin Chania
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     
0000010749 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001675 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.233198588A>G - DIS3L2_000029 rs757277629 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9467A>G, NM_152383.4:c.2049A>G r.(=) p.(=)
3 Parent #2 -?/-? g.52436816T>G - BAP1_000021 rs148624125 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1962A>C r.(=) p.(=)
3 Parent #2 -/- g.52438427C>T - BAP1_000015 rs150454901 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1250+42G>A r.(=) p.(=)
8 Parent #2 ?/? g.90983460G>A - NBN_000017 rs34767364 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.643C>T r.(?) p.(Arg215Trp)
9 Parent #2 -/- g.135772014C>T - TSC1_000026 rs118203742 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.3103G>A, NM_001162426.1:c.3100G>A, NM_001162427.1:c.2950G>A r.(?) p.(Gly1035Ser), p.(Gly1034Ser), p.(Gly984Ser)
14 Parent #2 ?/? g.45623852A>G - FANCM_000062 rs374213749 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1184-48A>G r.(=) p.(=)
15 Parent #2 ?/? g.40462915A>C - BUB1B_000010 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.384+33A>C r.(=) p.(=)
16 Parent #2 ?/? g.89815201G>A - FANCA_000039 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ?/? g.89831482_89831483del - FANCA_000043 rs577636020 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
Legend