Individual #00017276

Reference -
Gender F
Geographic origin Constantinople
Geographic origin Aigio
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     
0000009695 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000944 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.128017009C>T - ERCC3_000009 rs151216904 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
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.55561758G>T - KIT_000041 rs200950545 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.148G>T, NM_001093772.1:c.148G>T r.(?) p.(Val50Leu)
4 Parent #2 ?/? g.55595672_55595675del - KIT_000039 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2141+21_2141+24del, NM_001093772.1:c.2129+21_2129+24del r.(=) p.(=)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
15 Parent #2 ?/? g.89803907A>C - FANCI_000074 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.158-37A>C, NM_018193.2:c.158-37A>C r.(=) p.(=)
16 Parent #2 -?/-? g.2106740C>T - TSC2_000176 rs767565673 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.744C>T, NM_001077183.1:c.744C>T, NM_001114382.1:c.744C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2112941C>G - TSC2_000011 rs45517166 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1362-32C>G, NM_001077183.1:c.1362-32C>G, NM_001114382.1:c.1362-32C>G r.(=) p.(=)
17 Parent #2 -?/-? g.17125879G>A - FLCN_000023 rs78683075 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.715C>T, NM_144997.5:c.715C>T r.(?) p.(Arg239Cys)
17 Parent #2 ?/? g.59924512C>T - BRIP1_000004 rs4988346 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
17 Parent #2 -?/-? g.74470194C>A - RHBDF2_000006 rs11553545 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1495G>T, NM_024599.5:c.1582G>T r.(?) p.(Asp499Tyr), p.(Asp528Tyr)
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