Individual #00016817

Reference -
Gender F
Geographic origin Ancient Epidavros
Geographic origin -
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     
0000009073 62y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000533 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
5 Parent #2 ./. g.1288576C>A - chr5_000018 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -?/-? g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.127G>T r.(?) p.(Val43Leu)
9 Parent #2 ?/? g.98229452C>T - PTCH1_000041 rs78708791 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2506G>A, NM_001083602.1:c.2308G>A, NM_001083603.1:c.2503G>A, NM_001083604.1:c.2053G>A, NM_001083605.1:c.2053G>A, NM_001083606.1:c.2053G>A, NM_001083607.1:c.2053G>A r.(?) p.(Glu836Lys), p.(Glu770Lys), p.(Glu835Lys), p.(Glu685Lys)
12 Parent #2 ?/? g.58145142C>G - CDK4_000011 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.219-17G>C r.(=) p.(=)
13 Parent #2 +/+ g.32911298_32911301del - BRCA2_000238 rs80359351 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2808_2811del r.(?) p.(Ala938Profs*21)
16 Parent #2 ?/? g.2112651_2112654del - TSC2_000094 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1361+50_1361+53del, NM_001077183.1:c.1361+50_1361+53del, NM_001114382.1:c.1361+50_1361+53del r.(=) p.(=)
16 Parent #2 -/- g.2134221C>T - TSC2_000100 rs45517325 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4006-8C>T, NM_001077183.1:c.3805-8C>T, NM_001114382.1:c.3937-8C>T r.(=) p.(=)
16 Parent #2 ?/? g.14026187A>G - ERCC4_000012 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1102+45A>G r.(=) p.(=)
22 Parent #2 -?/-? g.29091178C>A - CHEK2_000012 rs200050883 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1441G>T, NM_001257387.1:c.649G>T, NM_007194.3:c.1312G>T, NM_145862.2:c.1225G>T r.(?) p.(Asp481Tyr), p.(Asp217Tyr), p.(Asp438Tyr), p.(Asp409Tyr)
Legend