Individual #00017866

Reference -
Gender F
Geographic origin Skoytera, Agrinio
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     
0000010652 67y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001986 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.29443623G>A - ALK_000067 rs56071005 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3594C>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
7 Parent #2 ?/? g.55211136G>A - EGFR_000014 rs377444977 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.379G>A, NM_201282.1:c.379G>A, NM_201283.1:c.379G>A, NM_201284.1:c.379G>A r.(?) p.(Ala127Thr)
7 Parent #2 ?/? g.116339584A>G - MET_000070 rs772398152 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.446A>G, NM_001127500.1:c.446A>G r.(?) p.(Asn149Ser)
7 Parent #2 ?/? g.148516716G>A - EZH2_000060 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.956C>T, NM_001203248.1:c.929C>T, NM_001203249.1:c.929C>T, NM_004456.4:c.971C>T, NM_152998.2:c.839C>T r.(?) p.(Pro319Leu), p.(Pro310Leu), p.(Pro324Leu), p.(Pro280Leu)
8 Parent #2 ?/? g.30924702C>T - WRN_000117 rs769275170 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.654+4C>T r.spl? p.?
8 Parent #2 ?/? g.31007953C>T - WRN_000109 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3669C>T r.(=) p.(=)
8 Parent #2 -/- g.145739917T>C - RECQL4_000015 rs373357384 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-8A>G - p.?
8 Parent #2 ?/? g.145741940G>A - RECQL4_000200 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.563C>T - p.?
Legend