Individual #00017832

Reference -
Gender F
Geographic origin Athens
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     
0000010598 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001912 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.47656935A>G - MSH2_000017 rs181852377 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1131A>G, NM_001258281.1:c.933A>G r.(=) p.(=)
2 Parent #2 -/- g.128016978G>A - ERCC3_000015 rs4150521 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2111C>T r.(?) p.(Ser704Leu)
10 Parent #2 ?/? g.104377047G>A - SUFU_000026 rs773979098 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1158G>A, NM_016169.3:c.1158G>A r.(=) p.(=)
11 Parent #2 ?/? g.95555791T>C - CEP57_000034 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.858+51T>C, NM_001243777.1:c.807+649T>C, NM_014679.4:c.885+51T>C r.(=) p.(=)
14 Parent #2 ?/? g.45645841T>C - FANCM_000108 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.3884T>C r.(?) p.(Ile1295Thr)
15 Parent #2 -?/-? g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1928G>A r.(?) p.(Arg643His)
16 Parent #2 ?/? g.3641280C>T - SLX4_000043 rs140600202 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2359G>A r.(?) p.(Glu787Lys)
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.89871647A>G - FANCA_000201 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.709+41T>C, NM_001018112.1:c.709+41T>C r.(=) p.(=)
17 Parent #2 -?/-? g.56772522G>A - RAD51C_000007 rs61758784 - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 -?/-? g.56780540G>T - RAD51C_000004 rs193023469 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
Legend