Individual #00017772

Reference -
Gender F
Geographic origin Aghios Nicolaos
Geographic origin Kritsa
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     
0000010448 48y - - Medullary N/A N/A N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001717 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.47698108T>C - MSH2_000026 rs61756466 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
2 Parent #2 ./. g.190728798A>G - PMS1_000001 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2186A>G, NM_001128143.1:c.2069A>G, NM_001128144.1:c.1857-3727A>G r.(?), r.(=) p.(Asn729Ser), p.(Asn690Ser), p.(=)
3 Parent #2 ./. g.14187642G>C - XPC_000062 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2511C>G, NM_004628.4:c.2622C>G r.(=) p.(=)
7 Parent #2 ./. g.148511069A>G - EZH2_000057 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1818T>C, NM_001203248.1:c.1791T>C, NM_001203249.1:c.1665T>C, NM_004456.4:c.1833T>C, NM_152998.2:c.1701T>C r.(=) p.(=)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ./. g.89813093G>C - FANCA_000036 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3412C>G r.(?) p.(Leu1138Val)
17 Parent #2 ./. g.74473071C>T - RHBDF2_000054 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.956G>A, NM_024599.5:c.1043G>A r.(?) p.(Arg319Gln), p.(Arg348Gln)
22 Parent #2 ./. g.24145622C>T - SMARCB1_000001 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.601+13C>T, NM_003073.3:c.628+13C>T r.(=) p.(=)
Legend