Individual #00016655

Reference -
Gender F
Geographic origin Corfu
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     
0000008835 55y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000323 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     
1 Parent #2 -?/-? g.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
2 Parent #2 ?/? g.232888939C>T - DIS3L2_000038 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.211-48C>T, NM_001257282.1:c.211-48C>T, NM_152383.4:c.211-48C>T r.(=) p.(=)
5 Parent #2 ./. g.1279799C>G - chr5_000010 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ?/? g.112176819C>T - APC_000002 rs368080169 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5528C>T, NM_001127510.2:c.5528C>T, NM_001127511.2:c.5474C>T r.(?) p.(Pro1843Leu), p.(Pro1825Leu)
5 Parent #2 ?/? g.112179551A>G - APC_000018 rs1561621841 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.8260A>G, NM_001127510.2:c.8260A>G, NM_001127511.2:c.8206A>G r.(?) p.(Ser2754Gly), p.(Ser2736Gly)
7 Parent #2 -?/-? g.148504771A>G - EZH2_000019 rs748102400 - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.2208T>C, NM_001203248.1:c.2181T>C, NM_001203249.1:c.2055T>C, NM_004456.4:c.2223T>C, NM_152998.2:c.2091T>C r.(=) p.(=)
7 Parent #2 -/- g.148526908A>G - EZH2_000011 rs61732845 - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.396T>C, NM_001203248.1:c.369T>C, NM_001203249.1:c.369T>C, NM_004456.4:c.396T>C, NM_152998.2:c.279T>C r.(=) p.(=)
8 Parent #2 ?/? g.90990527G>A - NBN_000010 rs182756889 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.505C>T r.(?) p.(Arg169Cys)
8 Parent #2 -/- g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1395G>A - p.?
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
13 Parent #2 ?/? g.48934289T>C - RB1_000028 rs3092867 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.718+26T>C r.(=) p.(=)
14 Parent #2 ?/? g.45644954G>A - FANCM_000022 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2997G>A r.(=) p.(=)
16 Parent #2 -/- g.2137902G>A - TSC2_000075 rs45475501 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5028G>A, NM_001077183.1:c.4827G>A, NM_001114382.1:c.4959G>A r.(=) p.(=)
Legend