Individual #00017467

Reference -
Gender F
Geographic origin Diavolitsi, Messinia
Geographic origin Heraklion
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000009937 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001126 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     
1 Parent #2 ?/? g.161326488C>A - SDHC_000019  rs778212096 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5631C>A, NM_001035512.1:c.161C>A, NM_001035513.1:c.104C>A, NM_001278172.1:c.140-5631C>A, NM_003001.3:c.263C>A r.(=), r.(?) p.(=), p.(Ser54*), p.(Ser35*), p.(Ser88*)
1 Parent #2 ?/? g.161326498A>G - SDHC_000012 - - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5621A>G, NM_001035512.1:c.171A>G, NM_001035513.1:c.114A>G, NM_001278172.1:c.140-5621A>G, NM_003001.3:c.273A>G r.(=) p.(=)
1 Parent #2 ?/? g.161326520T>A - SDHC_000013 rs760678574 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5599T>A, NM_001035512.1:c.193T>A, NM_001035513.1:c.136T>A, NM_001278172.1:c.140-5599T>A, NM_003001.3:c.295T>A r.(=), r.(?) p.(=), p.(Tyr65Asn), p.(Tyr46Asn), p.(Tyr99Asn)
1 Parent #2 ?/? g.161326531T>C - SDHC_000014 rs11547241 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5588T>C, NM_001035512.1:c.204T>C, NM_001035513.1:c.147T>C, NM_001278172.1:c.140-5588T>C, NM_003001.3:c.306T>C r.(=) p.(=)
1 Parent #2 ?/? g.161326532G>C - SDHC_000015 - - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5587G>C, NM_001035512.1:c.205G>C, NM_001035513.1:c.148G>C, NM_001278172.1:c.140-5587G>C, NM_003001.3:c.307G>C r.(=), r.(?) p.(=), p.(Val69Leu), p.(Val50Leu), p.(Val103Leu)
2 Parent #2 ?/? g.128051244C>T - ERCC3_000041 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.79G>A r.(?) p.(Glu27Lys)
3 Parent #2 ?/? g.10119791C>G - FANCD2_000095 rs767496500 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2886C>G, NM_033084.3:c.2886C>G r.(=) p.(=)
16 Parent #2 ?/? g.23641708C>T - PALB2_000047 rs769849072 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1767G>A r.(=) p.(=)
17 Parent #2 ?/? g.59871074C>T - BRIP1_000002 rs587780227 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1357G>A r.(?) p.(Ala453Thr)
17 Parent #2 ?/? g.59924512C>T - BRIP1_000004 rs4988346 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
18 Parent #2 ?/? g.48575235G>A - SMAD4_000021 rs200772603 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.424+5G>A r.spl? p.?
18 Parent #2 ?/? g.48575732G>C - SMAD4_000019 rs201924714 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.454+38G>C r.(=) p.(=)
22 Parent #2 +/+ g.29091725C>T - CHEK2_000019 rs371418985 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1361G>A, NM_001257387.1:c.569G>A, NM_007194.3:c.1232G>A, NM_145862.2:c.1145G>A r.(?) p.(Trp454*), p.(Trp190*), p.(Trp411*), p.(Trp382*)
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