Individual #00017443

Reference -
Gender F
Geographic origin Kalamata
Geographic origin -
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     
0000009911 34y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001110 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.17349074C>T - SDHB_000001 rs41273161 - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.765+29G>A r.(=) p.(=)
2 Parent #2 ./. g.48025785A>C - MSH6_000028 rs41557217 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.663A>C, NM_001281492.1:c.273A>C, NM_001281493.1:c.-244A>C, NM_001281494.1:c.-244A>C r.(?), r.(=) p.(Glu221Asp), p.(Glu91Asp), p.(=)
3 Parent #2 ./. g.14219932G>C - XPC_000010 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.103+34C>G, NM_004628.4:c.103+34C>G r.(=) p.(=)
7 Parent #2 ./. g.55269520A>G - EGFR_000009 rs41446045 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
8 Parent #2 ./. g.90965627C>T - NBN_000038 rs72550742 - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1690G>A r.(?) p.(Glu564Lys)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ./. g.2137985G>A - TSC2_000032 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
16 Parent #2 ./. g.2137992_2137993insC - TSC2_000194 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+50_5068+51insC, NM_001077183.1:c.4867+50_4867+51insC, NM_001114382.1:c.4999+50_4999+51insC r.(=) p.(=)
16 Parent #2 ./. g.3645613C>T - SLX4_000049 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2006G>A r.(?) p.(Arg669His)
16 Parent #2 ./. g.89815201G>A - FANCA_000039 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ./. g.89831482_89831483del - FANCA_000043 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
18 Parent #2 ./. g.48604848C>T - SMAD4_000004 rs11663402 - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
20 Both (homozygous) ./. g.62309839A>G - chr20_000006 rs6010620 - - - - - - Despoina Kalfakakou - - - -
X Parent #2 ./. g.132826549A>G - GPC3_000002 - - - - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1236-27T>C, NM_001164618.1:c.1119-27T>C, NM_001164619.1:c.1005-27T>C, NM_004484.3:c.1167-27T>C r.(=) p.(=)
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