Individual #00016748

Reference -
Gender M
Geographic origin Narte Vlore, Albania
Geographic origin -
Population Albanian
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     
0000008976 40y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000405 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1891-30G>C r.(=) p.(=)
3 Parent #2 -/- g.52439240T>C - BAP1_000002 rs28997577 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1002A>G r.(=) p.(=)
3 Parent #2 -?/-? g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.660-26T>A r.(=) p.(=)
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
7 Parent #2 ?/? g.66453508A>T - SBDS_000010 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-22T>A r.(=) p.(=)
7 Parent #2 ?/? g.66453515C>A - SBDS_000009 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
8 Parent #2 ?/? g.145737590C>T - RECQL4_000054 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3174G>A - p.?
12 Parent #2 ?/? g.58143057A>G - CDK4_000008 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.727T>C r.(?) p.(Ser243Pro)
13 Parent #2 -/- g.32912008G>A - BRCA2_000024 rs1799952 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3516G>A r.(=) p.(=)
13 Parent #2 ?/? g.48954153C>A - RB1_000012 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
13 Parent #2 ?/? g.48954156C>A - RB1_000018 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-33C>A r.(=) p.(=)
15 Parent #2 -?/-? g.91334091T>C - BLM_000003 rs532036885 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3019+17T>C r.(=) p.(=)
17 Parent #2 ?/? g.29587566C>T - NF1_000080 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+33C>T, NM_001042492.2:c.4577+33C>T r.(=) p.(=)
Legend