Individual #00017562

Reference -
Gender F
Geographic origin Grevena
Geographic origin Peloponnese
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     
0000010067 40y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001232 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
3 Parent #2 ?/? g.52436340C>T - BAP1_000047 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.2154G>A r.(=) p.(=)
3 Parent #2 ./. g.170130059T>G - chr3_000023 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.160833647A>G - chr6_000027 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.129192307T>C - chr8_000034 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ?/? g.35079256G>A - FANCG_000026 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.85-18C>T r.(=) p.(=)
9 Parent #2 -?/-? g.98209326A>G - PTCH1_000086 rs139086753 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4212T>C, NM_001083602.1:c.4014T>C, NM_001083603.1:c.4209T>C, NM_001083604.1:c.3759T>C, NM_001083605.1:c.3759T>C, NM_001083606.1:c.3759T>C, NM_001083607.1:c.3759T>C r.(=) p.(=)
10 Parent #2 ./. g.64580528T>G - chr10_000004 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.89011045C>T - chr11_000020 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.40468633A>C - BUB1B_000048 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.385-45A>C r.(=) p.(=)
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
Legend