Individual #00017248

Reference -
Gender F
Geographic origin Mandra, Attica Region
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     
0000009648 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000906 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.47596763_47596764insGGGCG - EPCAM_000023 - - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.76+43_76+44insGGGCG r.(=) p.(=)
2 Parent #2 -/- g.47698095G>A - MSH2_000025 rs17218356 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1662-9G>A, NM_001258281.1:c.1464-9G>A r.(=) p.(=)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ?/? g.98231373G>A - PTCH1_000055 rs369090032 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1910C>T, NM_001083602.1:c.1712C>T, NM_001083603.1:c.1907C>T, NM_001083604.1:c.1457C>T, NM_001083605.1:c.1457C>T, NM_001083606.1:c.1457C>T, NM_001083607.1:c.1457C>T r.(?) p.(Thr637Ile), p.(Thr571Ile), p.(Thr636Ile), p.(Thr486Ile)
10 Parent #2 -?/-? g.89711961G>A - PTEN_000003 rs568851024 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.579G>A r.(=) p.(=)
11 Parent #2 -?/-? g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
11 Parent #2 ?/? g.108150168T>C - ATM_000049 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3285-50T>C r.(=) p.(=)
13 Parent #2 ?/? g.103498672C>T - ERCC5_000012 rs34291397 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.56C>T r.(?) p.(Pro19Leu)
16 Parent #2 ?/? g.2137985G>A - TSC2_000032 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
16 Parent #2 -?/-? g.14041570T>C - ERCC4_000004 rs1800069 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2117T>C r.(?) p.(Ile706Thr)
16 Parent #2 -?/-? g.23646141_23646142insTCA - PALB2_000005 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
16 Parent #2 -/- g.68855966G>A - CDH1_000014 rs35187787 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1774G>A r.(?) p.(Ala592Thr)
Legend