Individual #00017119

Reference -
Gender F
Geographic origin Karditsa
Geographic origin -
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     
0000009471 51y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000832 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.14193818C>A - XPC_000032 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2004+17G>T, NM_004628.4:c.2115+17G>T r.(=) p.(=)
7 Parent #2 ?/? g.55214320G>A - EGFR_000048 rs759532524 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.446G>A, NM_201282.1:c.446G>A, NM_201283.1:c.446G>A, NM_201284.1:c.446G>A r.(?) p.(Arg149Gln)
8 Parent #2 ?/? g.145738886G>A - RECQL4_000008 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2201-22C>T - p.?
8 Parent #2 -/- g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1395G>A - p.?
11 Parent #2 -?/-? g.108098592T>C - ATM_000018 rs3218690 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.162T>C r.(=) p.(=)
13 Parent #2 -/- g.32968810T>C - BRCA2_000013 rs11571818 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 -/- g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
13 Parent #2 -?/-? g.49039375G>A - RB1_000024 rs748094394 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2360G>A r.(?) p.(Arg787Gln)
16 Parent #2 -?/-? g.23647516A>G - PALB2_000043 rs763330757 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.351T>C r.(=) p.(=)
16 Parent #2 ?/? g.50785548G>T - CYLD_000022 rs370450747 - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.538G>T, NM_001042412.1:c.538G>T, NM_015247.2:c.538G>T r.(?) p.(Val180Leu)
X Parent #2 -/- g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1354G>A, NM_001164618.1:c.1237G>A, NM_001164619.1:c.1123G>A, NM_004484.3:c.1285G>A r.(?) p.(Val452Met), p.(Val413Met), p.(Val375Met), p.(Val429Met)
Legend