Individual #00017395

Reference -
Gender F
Geographic origin Crete
Geographic origin Paiania
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     
0000009854 47y - - - - Despoina Kalfakakou
0000009855 47y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001061 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.228997805C>G - chr1_000013 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 -?/-? g.128047084G>C - ERCC3_000040 rs200361738 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.658-7C>G r.(=) p.(=)
3 Parent #2 ?/? g.52443548_52443549insC - BAP1_000043 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.122+21_122+22insG r.(=) p.(=)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
9 Parent #2 -?/-? g.98221997C>A - PTCH1_000076 rs1554691694 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2772G>T, NM_001083602.1:c.2574G>T, NM_001083603.1:c.2769G>T, NM_001083604.1:c.2319G>T, NM_001083605.1:c.2319G>T, NM_001083606.1:c.2319G>T, NM_001083607.1:c.2319G>T r.(=) p.(=)
9 Parent #2 -/- g.135804266G>A - TSC1_000005 rs62621221 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.-7C>T, NM_001162426.1:c.-7C>T, NM_001162427.1:c.-7C>T r.(=) p.(=)
10 Parent #2 ./. g.123337366C>T - chr10_000007 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ?/? g.45644816A>C - FANCM_000001  rs142864437 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2859A>C r.(?) p.(Lys953Asn)
16 Parent #2 ?/? g.2132528G>A - TSC2_000070 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3883+23G>A, NM_001077183.1:c.3682+729G>A, NM_001114382.1:c.3814+729G>A r.(=) p.(=)
16 Parent #2 -?/-? g.14028081C>T - ERCC4_000013 rs1799802 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1135C>T r.(?) p.(Pro379Ser)
19 Parent #2 ?/? g.45860846C>T - ERCC2_000065 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1307+42G>A, NM_001130867.1:c.*1272G>A r.(=) p.(=)
X Parent #2 -/- g.14863136A>G - FANCB_000015 rs142959373 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1769T>C, NM_152633.2:c.1769T>C r.(?) p.(Phe590Ser)
Legend