Individual #00017604

Reference -
Gender F
Geographic origin Raveni, Thesprotia
Geographic origin Anthrakitis, Zagorochoria, Ioannina
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     
0000010133 31y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001270 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
2 Parent #2 ?/? g.47703643G>C - MSH2_000062 rs1268745538 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2143G>C, NM_001258281.1:c.1945G>C r.(?) p.(Gly715Arg), p.(Gly649Arg)
3 Parent #2 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -?/-? g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1779C>T r.(=) p.(=)
9 Parent #2 ?/? g.135785949_135785950insGAT - TSC1_000020 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1263+8_1263+9insATC, NM_001162426.1:c.1260+8_1260+9insATC, NM_001162427.1:c.1110+8_1110+9insATC r.(=) p.(=)
10 Parent #2 ?/? g.72360130G>A - PRF1_000004 - - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.529C>T, NM_005041.4:c.529C>T r.(?) p.(Arg177Cys)
13 Parent #2 -/- g.49033812T>C - RB1_000053 rs201697122 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1961-12T>C r.(=) p.(=)
15 Parent #2 ?/? g.40477327G>T - BUB1B_000013 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.752-39G>T r.(=) p.(=)
17 Parent #2 -/- g.41223119T>C - BRCA1_000007 rs28897693 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4812A>G, NM_007297.3:c.4671A>G, NM_007298.3:c.1500A>G, NM_007299.3:c.1500A>G, NM_007300.3:c.4875A>G r.(=) p.(=)
19 Parent #2 ?/? g.45855645C>T - ERCC2_000015 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-35G>A r.(=) p.(=)
X Parent #2 ./. g.51210061T>C - chrX_000001 - - - - - - - Despoina Kalfakakou - - - -
Legend