Individual #00016637

Reference -
Gender M
Geographic origin -
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     

BRCA/FH     

Subtype     

Owner     
0000008811 48y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006973 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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.58425772A>G - FANCL_000046 rs1259863288 - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.497T>C, NM_018062.3:c.497T>C r.(?) p.(Phe166Ser)
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
4 Parent #2 ?/? g.55597987C>T - KIT_000009 rs72549295 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2234-50C>T, NM_001093772.1:c.2222-50C>T r.(=) p.(=)
9 Parent #2 ./. g.5070872del - chr9_000007 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ?/? g.135786100_135786101del - TSC1_000083 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1142-22_1142-21del, NM_001162426.1:c.1142-25_1142-24del, NM_001162427.1:c.989-22_989-21del r.(=) p.(=)
10 Parent #2 -?/-? g.88676885A>C - BMPR1A_000026 rs186999445 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.676-6A>C r.(=) p.(=)
11 Parent #2 ?/? g.47259369C>T - DDB2_000035 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1024-19C>T r.(=) p.(=)
11 Parent #2 ?/? g.108173754G>A - ATM_000253 rs1591713057 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5494G>A r.(?) p.(Glu1832Lys)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
12 Parent #2 ?/? g.58145248T>A - CDK4_000013 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.218+35A>T r.(=) p.(=)
12 Parent #2 ./. g.112241755A>G - chr12_000027 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -/- g.2138546G>A - TSC2_000004 rs45517419 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5359G>A, NM_001077183.1:c.5158G>A, NM_001114382.1:c.5290G>A r.(?) p.(Gly1787Ser), p.(Gly1720Ser), p.(Gly1764Ser)
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