Individual #00017901

Reference -
Gender F
Geographic origin Armenia
Geographic origin Heraklion
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     
0000010711 47y - - Ductal Invasive III N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002018 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     
7 Parent #2 ./. g.55248952G>A - EGFR_000046 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2284-34G>A r.(=) p.(=)
8 Parent #2 ./. g.145742943G>A - RECQL4_000201 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.118+43C>T - p.?
9 Parent #2 ./. g.98240489G>A - PTCH1_000029 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1216-21C>T, NM_001083602.1:c.1018-21C>T, NM_001083603.1:c.1213-21C>T, NM_001083604.1:c.763-21C>T, NM_001083605.1:c.763-21C>T, NM_001083606.1:c.763-21C>T, NM_001083607.1:c.763-21C>T r.(=) p.(=)
11 Parent #2 ./. g.44129636C>G - EXT2_000049 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.473C>G, NM_001178083.1:c.374C>G, NM_207122.1:c.374C>G r.(?) p.(Thr158Ser), p.(Thr125Ser)
13 Parent #2 ./. g.32906766C>T - BRCA2_000031 rs41293475 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1151C>T r.(?) p.(Ser384Phe)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
15 Parent #2 ./. g.89828320C>A - FANCI_000032 rs28446881 - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1699-7C>A, NM_018193.2:c.1699-7C>A r.(=) p.(=)
15 Parent #2 ./. g.89847054T>C - FANCI_000037 rs28517718 - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3007-41T>C, NM_018193.2:c.2827-41T>C r.(=) p.(=)
16 Parent #2 ./. g.2136326G>A - TSC2_000300 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4795G>A, NM_001077183.1:c.4594G>A, NM_001114382.1:c.4726G>A r.(?) p.(Val1599Met), p.(Val1532Met), p.(Val1576Met)
16 Parent #2 ./. g.2137902G>A - TSC2_000075 rs45475501 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5028G>A, NM_001077183.1:c.4827G>A, NM_001114382.1:c.4959G>A r.(=) p.(=)
17 Parent #2 ./. g.29508818G>T - NF1_000024 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.730+15G>T, NM_001042492.2:c.730+15G>T, NM_001128147.2:c.730+15G>T r.(=) p.(=)
17 Parent #2 ./. g.59926633_59926634insA - BRIP1_000017 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.380-17_380-16insT r.(=) p.(=)
Legend