Individual #00015523

Reference -
Gender F
Geographic origin Krapsi, Ioannina
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000007224 45y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000003 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.45805880G>A - MUTYH_000004 rs2275602 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.36+11C>T, NM_001048172.1:c.-239C>T, NM_001048173.1:c.-239C>T, NM_001048174.1:c.-316C>T, NM_001128425.1:c.36+11C>T, NM_012222.2:c.36+11C>T r.(=) p.(=)
3 Parent #2 ?/? g.10106476T>C - FANCD2_000007 rs760296624 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2085T>C, NM_033084.3:c.2085T>C r.(=) p.(=)
7 Parent #2 ?/? g.55268044C>T - EGFR_000001 rs17337451 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2884C>T r.(?) p.(Arg962Cys)
7 Parent #2 ?/? g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
10 Parent #2 ?/? g.72360130G>A - PRF1_000004 - - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.529C>T, NM_005041.4:c.529C>T r.(?) p.(Arg177Cys)
10 Parent #2 -?/-? g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.975A>G r.(=) p.(=)
11 Parent #2 ?/? g.95562311C>T - CEP57_000001 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.1101-40C>T, NM_001243777.1:c.1050-40C>T, NM_014679.4:c.1128-40C>T r.(=) p.(=)
16 Parent #2 ?/? g.3658749C>G - SLX4_000004 rs139829211 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.217G>C r.(?) p.(Glu73Gln)
Legend