Individual #00017335

Reference -
Gender F
Geographic origin Cyprus
Geographic origin Kyparissia
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     
0000009778 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000996 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.29473926C>A - ALK_000052 rs13405107 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2204+45G>T r.(=) p.(=)
3 Parent #2 -/- g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.78A>C, NM_033084.3:c.78A>C r.(?) p.(Gln26His)
6 Parent #2 ./. g.31620548G>C - chr6_000048 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.6022561T>G - PMS2_000003 rs587781909 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2068A>C r.(?) p.(Lys690Gln)
9 Parent #2 ?/? g.98242891C>T - PTCH1_000073 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.747-21G>A, NM_001083602.1:c.549-21G>A, NM_001083603.1:c.744-21G>A, NM_001083604.1:c.294-21G>A, NM_001083605.1:c.294-21G>A, NM_001083606.1:c.294-21G>A, NM_001083607.1:c.294-21G>A r.(=) p.(=)
17 Parent #2 ?/? g.17118291T>C - FLCN_000032 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144997.5:c.1538+8A>G r.(=) p.(=)
17 Parent #2 -?/-? g.59937167T>C - BRIP1_000042 rs141436143 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.195A>G r.(=) p.(=)
19 Parent #2 ./. g.47207685G>C - chr19_000002 - - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 -?/-? g.30069341C>T - NF2_000002 rs137953976 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1206C>T, NM_016418.5:c.1206C>T, NM_181825.2:c.1206C>T, NM_181828.2:c.1080C>T, NM_181829.2:c.1083C>T, NM_181830.2:c.957C>T, NM_181831.2:c.957C>T, NM_181832.2:c.1206C>T, NM_181833.2:c.448-21400C>T r.(=) p.(=)
Legend