Individual #00016595

Reference -
Gender F
Geographic origin Poros
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     
0000008748 34y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000289 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 -?/-? g.47698179A>G - MSH2_000003 rs61756467 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 -?/-? g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.183C>G, NM_198156.2:c.183C>G r.(=) p.(=)
3 Parent #2 -/- g.37061893T>C - MLH1_000017 rs63751049 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.977T>C, NM_001167617.1:c.683T>C, NM_001167618.1:c.254T>C, NM_001167619.1:c.254T>C, NM_001258271.1:c.977T>C, NM_001258273.1:c.254T>C, NM_001258274.1:c.254T>C r.(?) p.(Val326Ala), p.(Val228Ala), p.(Val85Ala)
5 Parent #2 ?/? g.112179233G>T - APC_000016 rs1195417407 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.7942G>T, NM_001127510.2:c.7942G>T, NM_001127511.2:c.7888G>T r.(?) p.(Ala2648Ser), p.(Ala2630Ser)
8 Parent #2 ?/? g.30948094_30948095del - WRN_000005 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1720+46_1720+47del r.(=) p.(=)
11 Parent #2 -?/-? g.108186610G>A - ATM_000002 rs11212587 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6067G>A r.(?) p.(Gly2023Arg)
13 Parent #2 ?/? g.32936618C>A - BRCA2_000061 - - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7806-42C>A r.(=) p.(=)
15 Parent #2 ?/? g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.504-49T>C, NM_018193.2:c.504-49T>C r.(=) p.(=)
15 Parent #2 -?/-? g.91358479G>A - BLM_000032 rs774367622 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4224G>A r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 -/- g.14015932C>T - ERCC4_000001 rs3136056 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89805495G>A - FANCA_000066 rs191404781 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4167+46C>T r.(=) p.(=)
17 Parent #2 -?/-? g.33434103C>G - RAD51D_000006 rs1393403501 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.444G>C, NM_002878.3:c.384G>C, NM_133629.2:c.145-603G>C r.(=) p.(=)
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