Individual #00016733

Reference -
Gender F
Geographic origin Athens
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     
0000008955 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000390 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     
4 Parent #2 -?/-? g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.726A>G r.(=) p.(=)
6 Parent #2 ?/? g.35420304G>C - FANCE_000006 rs13215706 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
7 Parent #2 ?/? g.55229188G>A - EGFR_000032 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1499-4G>A, NM_201282.1:c.1499-4G>A, NM_201283.1:c.*4652G>A, NM_201284.1:c.1499-4G>A r.spl?, r.(=) p.?, p.(=)
9 Parent #2 ?/? g.21971188G>T - CDKN2A_000005 rs372266620 - Germline - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.170C>A, NM_001195132.1:c.170C>A, NM_058195.3:c.213C>A, NM_058197.4:c.*93C>A r.(?), r.(=) p.(Ala57Asp), p.(=)
11 Parent #2 ?/? g.111965591C>G - SDHD_000006 - - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.232C>G, NM_001276504.1:c.260C>G, NM_001276506.1:c.*75C>G, NM_003002.3:c.377C>G r.(?), r.(=) p.(Gln78Glu), p.(Ala87Gly), p.(=), p.(Ala126Gly)
12 Parent #2 ?/? g.121435248C>T - HNF1A_000013 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1310-29C>T r.(=) p.(=)
15 Parent #2 ?/? g.40509781G>C - BUB1B_000017 rs28989183 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2763G>C r.(?) p.(Gln921His)
16 Parent #2 ?/? g.2106149C>T - TSC2_000042 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.600-48C>T, NM_001077183.1:c.600-48C>T, NM_001114382.1:c.600-48C>T r.(=) p.(=)
16 Parent #2 -/- g.14015932C>T - ERCC4_000001 rs3136056 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
Legend