Individual #00017510

Reference -
Gender F
Geographic origin Lianikladi, Phthiotis
Geographic origin Constantinople
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     
0000009992 70y - - - - Despoina Kalfakakou
0000009993 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001167 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.17354373_17354374insGAAGAA - SDHB_000010 - - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTCTTC r.(=) p.(=)
3 Both (homozygous) -?/-? g.37067096_37067102del - MLH1_000005 rs71831268 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
8 Parent #2 ?/? g.31007825_31007826insTTG - WRN_000016 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3573-32_3573-31insTTG r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
11 Parent #2 ?/? g.108178576T>C - ATM_000067 rs368669649 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5675-48T>C r.(=) p.(=)
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
16 Parent #2 -/- g.2138546G>A - TSC2_000004 rs45517419 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5359G>A, NM_001077183.1:c.5158G>A, NM_001114382.1:c.5290G>A r.(?) p.(Gly1787Ser), p.(Gly1720Ser), p.(Gly1764Ser)
16 Parent #2 ?/? g.68863659C>T - CDH1_000050 rs587782162 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2398C>T r.(?) p.(Arg800Cys)
17 Parent #2 ?/? g.29508420A>T - NF1_000192 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.587-20A>T, NM_001042492.2:c.587-20A>T, NM_001128147.2:c.587-20A>T r.(=) p.(=)
Legend