Individual #00017095

Reference -
Gender F
Geographic origin Lappa, Achaia
Geographic origin Neapoli, Elis
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     
0000009440 40y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000816 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.47703654A>G - MSH2_000045 rs63750810 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2154A>G, NM_001258281.1:c.1956A>G r.(=) p.(=)
4 Parent #2 ?/? g.41749451C>T - PHOX2B_000013 - - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.344G>A r.(?) p.(Arg115Lys)
9 Parent #2 -?/-? g.98232081G>A - PTCH1_000016 rs202007968 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1847+14C>T, NM_001083602.1:c.1649+14C>T, NM_001083603.1:c.1844+14C>T, NM_001083604.1:c.1394+14C>T, NM_001083605.1:c.1394+14C>T, NM_001083606.1:c.1394+14C>T, NM_001083607.1:c.1394+14C>T r.(=) p.(=)
13 Parent #2 ?/? g.32953904C>T - BRCA2_000113 rs751787816 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8971C>T r.(?) p.(Arg2991Cys)
15 Parent #2 ?/? g.40462915A>C - BUB1B_000010 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.384+33A>C r.(=) p.(=)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
Legend