Individual #00017976

Reference -
Gender F
Geographic origin Koynina, Aigio
Geographic origin Kerinia, Aigio
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     
0000010850 52y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002215 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.29917736C>T - ALK_000001 rs150966028 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.932G>A r.(?) p.(Arg311His)
2 Parent #2 -/- g.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 -?/-? g.47698179A>G - MSH2_000003 rs61756467 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 ?/? g.10116301A>C - FANCD2_000049 rs61751578 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2803A>C, NM_033084.3:c.2803A>C r.(?) p.(Ile935Leu)
8 Parent #2 ./. g.129192263G>A - chr8_000019 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -?/-? g.145739416C>T - RECQL4_000041 rs61754061 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1954G>A - p.?
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
17 Parent #2 ?/? g.59924512C>T - BRIP1_000004 rs4988346 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
19 Parent #2 ?/? g.45855492C>T - ERCC2_000126 rs138569838 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2165G>A r.(?) p.(Arg722Gln)
22 Parent #2 -?/-? g.24145622C>T - SMARCB1_000001 rs184021903 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.601+13C>T, NM_003073.3:c.628+13C>T r.(=) p.(=)
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