Individual #00016438

Reference -
Gender F
Geographic origin Crete
Geographic origin Evia
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     
0000008515 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000160 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.45795096G>A - MUTYH_000012  rs796921537 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1490C>T, NM_001048172.1:c.1451C>T, NM_001048173.1:c.1448C>T, NM_001048174.1:c.1448C>T, NM_001128425.1:c.1532C>T, NM_012222.2:c.1523C>T r.(?) p.(Ser497Phe), p.(Ser484Phe), p.(Ser483Phe), p.(Ser511Phe), p.(Ser508Phe)
2 Parent #2 ?/? g.58468451C>G - FANCL_000014 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.-3G>C, NM_018062.3:c.-3G>C r.(=) p.(=)
3 Parent #2 ?/? g.10107554C>T - FANCD2_000028 rs758628578 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2276C>T, NM_033084.3:c.2276C>T r.(?) p.(Pro759Leu)
3 Parent #2 ?/? g.10130083A>T - FANCD2_000010 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3467-50A>T, NM_033084.3:c.3467-50A>T r.(=) p.(=)
3 Parent #2 ?/? g.14211994T>C - XPC_000014 rs1030223497 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.356A>G, NM_004628.4:c.356A>G r.(?) p.(Asn119Ser)
3 Parent #2 -/- g.37067102T>A - MLH1_000007 rs1360955428 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-26T>A, NM_001167617.1:c.745-26T>A, NM_001167618.1:c.316-26T>A, NM_001167619.1:c.316-26T>A, NM_001258271.1:c.1039-26T>A, NM_001258273.1:c.316-26T>A, NM_001258274.1:c.316-26T>A r.(=) p.(=)
7 Parent #2 -/- g.6018249A>G - PMS2_000021 rs1805325 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2253T>C r.(=) p.(=)
7 Parent #2 ?/? g.55233172C>T - EGFR_000029 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1880+42C>T, NM_201282.1:c.1880+42C>T, NM_201284.1:c.1880+42C>T r.(=) p.(=)
11 Parent #2 -/- g.108175387G>C - ATM_000035 rs3092828 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
13 Parent #2 ?/? g.48954145C>A - RB1_000017 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-44C>A r.(=) p.(=)
13 Parent #2 ?/? g.48954153C>A - RB1_000012 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
Legend