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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008748 34y - - Ductal Invasive II N/A Positive Positive Positive - - - 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 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - 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 - - - - - - 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 - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1720+46_1720+47del r.(=) p.(=)
11 Parent #2 ./. g.108186610G>A - ATM_000002 rs11212587 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6067G>A r.(?) p.(Gly2023Arg)
13 Parent #2 ./. g.32936618C>A - BRCA2_000061 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7806-42C>A r.(=) p.(=)
15 Parent #2 ./. g.89806601T>C - FANCI_000028 - - - - - - - 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 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4224G>A r.(=) p.(=)
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ./. g.14015932C>T - ERCC4_000001 rs3136056 - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
16 Parent #2 ./. g.89805495G>A - FANCA_000066 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4167+46C>T r.(=) p.(=)
17 Parent #2 ./. g.33434103C>G - RAD51D_000006 - - - - - - - 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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