Individual #00016794

Reference -
Gender F
Geographic origin Argos
Geographic origin Nafplio
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     
0000009045 49y - - - - Despoina Kalfakakou
0000009046 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000495 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
3 Parent #2 ?/? g.10133957A>G - FANCD2_000058 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3849+21A>G, NM_033084.3:c.3849+21A>G r.(=) p.(=)
3 Parent #2 ./. g.151899662G>A - chr3_000009 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 -?/-? g.35423741C>T - FANCE_000017 rs747537380 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.466C>T r.(=) p.(=)
7 Parent #2 ?/? g.55240780G>A - EGFR_000006 rs150423237 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2024G>A, NM_201282.1:c.*4558G>A, NM_201284.1:c.*2543G>A r.(?), r.(=) p.(Arg675Gln), p.(=)
8 Parent #2 ?/? g.30925768T>C - WRN_000041 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.655-6T>C r.(=) p.(=)
8 Parent #2 ?/? g.30933673del - WRN_000050 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.725-16del r.(=) p.(=)
8 Parent #2 ?/? g.145738566C>T - RECQL4_000037 rs36115640 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+35G>A - p.?
11 Parent #2 -/- g.44146513C>T - EXT2_000019 rs35436405 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1017C>T, NM_001178083.1:c.918C>T, NM_207122.1:c.918C>T r.(=) p.(=)
11 Parent #2 -?/-? g.108163382C>T - ATM_000005 rs4988008 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4473C>T r.(=) p.(=)
15 Parent #2 ?/? g.40509781G>C - BUB1B_000017 rs28989183 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2763G>C r.(?) p.(Gln921His)
16 Parent #2 ?/? g.2137888A>G - TSC2_000089 rs397514974 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5014A>G, NM_001077183.1:c.4813A>G, NM_001114382.1:c.4945A>G r.(?) p.(Ile1672Val), p.(Ile1605Val), p.(Ile1649Val)
16 Parent #2 -?/-? g.68842578C>T - CDH1_000008 rs200673941 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.532-18C>T r.(=) p.(=)
19 Parent #2 -?/-? g.1219380G>A - STK11_000015 rs376788924 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.432G>A r.(=) p.(=)
Legend