Individual #00017016

Reference -
Gender F
Geographic origin Peloponnese
Geographic origin Izmir
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     
0000009340 44y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000766 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.190738210T>C - PMS1_000017 rs201993417 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2474-12T>C, NM_001128143.1:c.2357-12T>C, NM_001128144.1:c.1988-12T>C r.(=) p.(=)
6 Parent #2 ./. g.29906675T>C - chr6_000032 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
8 Parent #2 -?/-? g.31004638G>A - WRN_000036 rs144116311 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3453G>A r.(=) p.(=)
8 Parent #2 ?/? g.118832021G>C - EXT1_000005 rs145720047 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1430C>G r.(?) p.(Pro477Arg)
8 Parent #2 -/- g.145739917T>C - RECQL4_000015 rs373357384 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-8A>G - p.?
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -?/-? g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-15G>A, NM_001077183.1:c.3682+623G>A, NM_001114382.1:c.3814+623G>A r.(=) p.(=)
Legend