Individual #00016506

Reference -
Gender F
Geographic origin Epanomi, Thessaloniki
Geographic origin Pontokerasia, Kilkis
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008618 41y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000220 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
8 Parent #2 ./. g.145737212T>C - RECQL4_000076 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3395-40A>G - p.?
8 Parent #2 ./. g.145739127G>A - RECQL4_000010 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
8 Parent #2 ./. g.145740702C>T - RECQL4_000049 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1390+8G>A - p.?
11 Parent #2 ./. g.22646484T>C - FANCF_000006 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.873A>G r.(=) p.(=)
11 Parent #2 ./. g.22646784G>C - FANCF_000007 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.573C>G r.(?) p.(Ser191Arg)
11 Parent #2 ./. g.22647387A>G - FANCF_000004 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.-31T>C r.(=) p.(=)
13 Parent #2 ./. g.32905024A>G - BRCA2_000030 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.682-32A>G r.(=) p.(=)
13 Parent #2 ./. g.103504420G>A - ERCC5_000011 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.89-48G>A r.(=) p.(=)
14 Parent #2 ./. g.45605287G>A - FANCM_000033 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.53G>A r.(?) p.(Arg18Gln)
16 Parent #2 ./. g.3632331G>T - SLX4_000042 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.*12C>A r.(=) p.(=)
17 Parent #2 ./. g.29533212C>T - NF1_000097 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1261-46C>T, NM_001042492.2:c.1261-46C>T, NM_001128147.2:c.1261-46C>T r.(=) p.(=)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend