Individual #00017777

Reference -
Gender F
Geographic origin Syros
Geographic origin -
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     
0000010458 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001726 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.47672819T>G - MSH2_000050 rs747646424 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1386+23T>G, NM_001258281.1:c.1188+23T>G r.(=) p.(=)
6 Parent #2 ./. g.160840233del - chr6_000049 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.30933799C>T - WRN_000101 rs199923241 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.835C>T r.(?) p.(Arg279Trp)
9 Parent #2 -/- g.97912307T>A - FANCC_000001 rs1800365 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
9 Parent #2 -?/-? g.98215774G>A - PTCH1_000099 rs200435277 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3435C>T, NM_001083602.1:c.3237C>T, NM_001083603.1:c.3432C>T, NM_001083604.1:c.2982C>T, NM_001083605.1:c.2982C>T, NM_001083606.1:c.2982C>T, NM_001083607.1:c.2982C>T r.(=) p.(=)
10 Parent #2 -/- g.43614965C>G - RET_000085 rs144269978 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2393-14C>G, NM_020975.4:c.2393-14C>G r.(=) p.(=)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -?/-? g.2110765C>T - TSC2_000010 rs150195368 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1070C>T, NM_001077183.1:c.1070C>T, NM_001114382.1:c.1070C>T r.(?) p.(Ala357Val)
16 Parent #2 -/- g.14015932C>T - ERCC4_000001 rs3136056 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
Legend