Individual #00017612

Reference -
Gender F
Geographic origin Paros
Geographic origin Asia Minor
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     
0000010149 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001279 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.128016978G>A - ERCC3_000015 rs4150521 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2111C>T r.(?) p.(Ser704Leu)
3 Parent #2 ?/? g.10115074G>T - FANCD2_000030 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2715+28G>T, NM_033084.3:c.2715+28G>T r.(=) p.(=)
3 Parent #1 -/- 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.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
4 Parent #2 ?/? g.55573494C>A - KIT_000002 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1115+41C>A, NM_001093772.1:c.1115+41C>A r.(=) p.(=)
10 Parent #2 -?/-? g.43609136C>T - RET_000021 rs375573788 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1879+13C>T, NM_020975.4:c.1879+13C>T r.(=) p.(=)
13 Parent #2 -?/-? g.32915313G>A - BRCA2_000054 rs55712212 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6821G>A r.(?) p.(Gly2274Glu)
14 Parent #2 ?/? g.45623075A>C - FANCM_000080 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1051-48A>C r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
17 Parent #2 ?/? g.41249343G>T - BRCA1_000104 - - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.548-37C>A, NM_007297.3:c.407-37C>A, NM_007298.3:c.548-37C>A, NM_007299.3:c.548-37C>A, NM_007300.3:c.548-37C>A r.(=) p.(=)
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