Individual #00020404

Reference -
Gender F
Geographic origin Karpathos
Geographic origin Samos
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, PNCA2
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     
0000012904 71y - - - - Despoina Kalfakakou

Pancreatic cancer 2 (PNCA2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012903 76y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001611 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     
2 Parent #2 ?/? g.233194706T>C - DIS3L2_000033 rs775814377 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-13349T>C, NM_152383.4:c.1923T>C r.(=) p.(=)
4 Parent #2 -/- g.55604597T>A - KIT_000013 rs72549296 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
11 Parent #2 ?/? g.532596G>A - HRAS_000008 rs45524036 - Germline - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.*40C>T, NM_005343.2:c.*5+35C>T, NM_176795.3:c.*179C>T r.(=) p.(=)
11 Parent #2 ?/? g.32456448G>A - WT1_000027 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.444C>T, NM_001198551.1:c.-4363C>T, NM_001198552.1:c.-4363C>T, NM_024424.3:c.444C>T, NM_024426.4:c.444C>T r.(=) p.(=)
12 Parent #2 ?/? g.58145149_58145150insTCAA - CDK4_000017 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.219-25_219-24insTTGA r.(=) p.(=)
15 Parent #2 -?/-? g.40477419A>G - BUB1B_000057 rs148159407 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.805A>G r.(?) p.(Asn269Asp)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
X Parent #2 ./. g.51210061T>C - chrX_000001 - - - - - - - Despoina Kalfakakou - - - -
Legend