Individual #00016596

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     
0000008749 40y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000290 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.45797846G>A - MUTYH_000014 rs138089183 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.883C>T, NM_001048172.1:c.844C>T, NM_001048173.1:c.841C>T, NM_001048174.1:c.841C>T, NM_001128425.1:c.925C>T, NM_012222.2:c.916C>T r.(?) p.(Arg295Cys), p.(Arg282Cys), p.(Arg281Cys), p.(Arg309Cys), p.(Arg306Cys)
3 Parent #2 ?/? g.10119870C>G - FANCD2_000032 rs200568638 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2965C>G, NM_033084.3:c.2965C>G r.(?) p.(Pro989Ala)
3 Parent #2 -?/-? g.37067100_37067101insATATATA - MLH1_000044 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-28_1039-27insATATATA, NM_001167617.1:c.745-28_745-27insATATATA, NM_001167618.1:c.316-28_316-27insATATATA, NM_001167619.1:c.316-28_316-27insATATATA, NM_001258271.1:c.1039-28_1039-27insATATATA, NM_001258273.1:c.316-28_316-27insATATATA, NM_001258274.1:c.316-28_316-27insATATATA r.(=) p.(=)
4 Parent #2 -?/-? g.55569955G>A - KIT_000020 rs747288547 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.822G>A, NM_001093772.1:c.822G>A r.(=) p.(=)
8 Parent #2 ?/? g.30942649T>C - WRN_000026 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1351-33T>C r.(=) p.(=)
10 Parent #2 -?/-? g.43601913C>A - RET_000024 rs149926238 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.957C>A, NM_020975.4:c.957C>A r.(=) p.(=)
10 Parent #2 ?/? g.43608336A>T - RET_000020 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1684A>T, NM_020975.4:c.1684A>T r.(?) p.(Thr562Ser)
10 Parent #2 -?/-? g.43615109G>T - RET_000011 rs56195026 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2523G>T, NM_020975.4:c.2523G>T r.(=) p.(=)
10 Parent #2 ?/? g.72357763A>G - PRF1_000016 rs140956842 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
16 Parent #2 ?/? g.89839684C>T - FANCA_000061 rs537923341 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2009G>A r.(?) p.(Arg670His)
Legend