Individual #00016713

Reference -
Gender F
Geographic origin -
Geographic origin -
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     
0000008926 58y - - Ductal Invasive I I Positive Positive Negative - - - 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     
0000008927 62y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000372 DNA SEQ-NG-I 1 - 21 Despoina Kalfakakou



Variants

21 entries on 1 page. Showing entries 1 - 21.
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     
1 Parent #2 ./. g.17355075A>T - SDHB_000007 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.423+20T>A r.(=) p.(=)
1 Parent #2 ./. g.17355218A>G - SDHB_000003 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
2 Parent #2 ./. g.128037999C>T - ERCC3_000016 rs4150457 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1527+24G>A r.(=) p.(=)
3 Parent #2 ./. g.10128833C>T - FANCD2_000037 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3351C>T, NM_033084.3:c.3351C>T r.(=) p.(=)
5 Parent #2 ./. g.112162779T>G - APC_000024 rs9282598 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.1409-26T>G, NM_001127510.2:c.1409-26T>G, NM_001127511.2:c.1355-26T>G r.(=) p.(=)
6 Parent #2 ./. g.35420304G>C - FANCE_000006 rs13215706 - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
13 Parent #2 ./. g.103498662C>T - ERCC5_000034 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.46C>T r.(?) p.(Gln16*)
15 Parent #2 ./. g.89844719C>A - FANCI_000036 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3006+46C>A, NM_018193.2:c.2826+46C>A r.(=) p.(=)
16 Parent #2 ./. g.2110765C>T - TSC2_000010 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1070C>T, NM_001077183.1:c.1070C>T, NM_001114382.1:c.1070C>T r.(?) p.(Ala357Val)
16 Parent #2 ./. g.3658460G>A - SLX4_000023 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.506C>T r.(?) p.(Ser169Leu)
16 Parent #2 ./. g.23646323T>C - PALB2_000014 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1544A>G r.(?) p.(Lys515Arg)
16 Parent #2 ./. g.89838247G>T - FANCA_000058 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2015-25C>A r.(=) p.(=)
16 Parent #2 ./. g.89842176C>G - FANCA_000004 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
17 Parent #2 ./. g.25541317C>T - chr17_000002 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.29557827T>A - NF1_000108 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3114-33T>A, NM_001042492.2:c.3114-33T>A r.(=) p.(=)
17 Parent #2 ./. g.41226488C>A - BRCA1_000009 rs1800744 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4535G>T, NM_007297.3:c.4394G>T, NM_007298.3:c.1223G>T, NM_007299.3:c.1223G>T, NM_007300.3:c.4598G>T r.(?) p.(Ser1512Ile), p.(Ser1465Ile), p.(Ser408Ile), p.(Ser1533Ile)
17 Parent #2 ./. g.59853755C>T - BRIP1_000022 rs4988352 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2097+7G>A r.(=) p.(=)
18 Parent #2 ./. g.48575231G>A - SMAD4_000014 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.424+1G>A r.spl? p.?
18 Parent #2 ./. g.48575233A>C - SMAD4_000006 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.424+3A>C r.spl? p.?
18 Parent #2 ./. g.48581366G>C - SMAD4_000007 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.667+3G>C r.spl? p.?
22 Parent #2 ./. g.30069524G>A - NF2_000006 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1340+49G>A, NM_016418.5:c.1340+49G>A, NM_181825.2:c.1340+49G>A, NM_181828.2:c.1214+49G>A, NM_181829.2:c.1217+49G>A, NM_181830.2:c.1091+49G>A, NM_181831.2:c.1091+49G>A, NM_181832.2:c.1340+49G>A, NM_181833.2:c.448-21217G>A r.(=) p.(=)
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