Individual #00016541

Reference -
Gender F
Geographic origin Episkopi, Rethymno
Geographic origin Volos
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, OVCA
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     
0000008664 72y - - Ductal Invasive II N/A N/A N/A N/A - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000008665 71y - - N/A N/A - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000244 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.29443584G>T - ALK_000031 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3633C>A r.(=) p.(=)
7 Parent #2 ./. g.55240688G>A - EGFR_000019 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1932G>A, NM_201282.1:c.*4466G>A, NM_201284.1:c.*2451G>A r.(=) p.(=)
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
11 Parent #2 ./. g.533451A>C - HRAS_000002 - - - - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.450+2T>G, NM_005343.2:c.450+2T>G, NM_176795.3:c.450+2T>G r.spl? p.?
11 Parent #2 ./. g.64577591C>G - MEN1_000013 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.-10G>C, NM_130799.2:c.-10G>C, NM_130800.2:c.-10G>C, NM_130801.2:c.-10G>C, NM_130802.2:c.-10G>C, NM_130803.2:c.-10G>C, NM_130804.2:c.-10G>C r.(=) p.(=)
11 Parent #2 ./. g.67250676G>A - AIP_000009 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
13 Parent #2 ./. g.48954153C>A - RB1_000012 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
15 Parent #2 ./. g.91298044G>A - BLM_000037 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.963G>A r.(=) p.(=)
16 Parent #2 ./. g.3658460G>A - SLX4_000023 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.506C>T r.(?) p.(Ser169Leu)
16 Parent #2 ./. g.89842220T>C - FANCA_000044 rs1800338 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1830A>G r.(=) p.(=)
17 Parent #2 ./. g.17129684_17129687del - FLCN_000017 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.250-51_250-48del, NM_144997.5:c.250-51_250-48del r.(=) p.(=)
17 Parent #2 ./. g.41245027G>A - BRCA1_000038 rs1800709 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2521C>T, NM_007297.3:c.2380C>T, NM_007298.3:c.787+1734C>T, NM_007299.3:c.787+1734C>T, NM_007300.3:c.2521C>T r.(?), r.(=) p.(Arg841Trp), p.(Arg794Trp), p.(=)
17 Parent #2 ./. g.74471258C>T - RHBDF2_000001 rs62085019 - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1116-35G>A, NM_024599.5:c.1203-35G>A r.(=) p.(=)
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