Individual #00017845

Reference -
Gender F
Geographic origin Corfu
Geographic origin Piraeus
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     
0000010623 54y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001958 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     
4 Parent #2 ?/? g.55569881A>G - KIT_000047 rs367986084 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.757-9A>G, NM_001093772.1:c.757-9A>G r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 ?/? g.98278946C>G - PTCH1_000077 rs185570125 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_001083602.1:c.-193G>C, NM_001083603.1:c.157G>C r.(=), r.(?) p.(=), p.(Glu53Gln)
13 Parent #2 ?/? g.48916887A>G - RB1_000008 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ?/? g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
13 Parent #2 -/- g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
16 Parent #2 ?/? g.2137984C>T - TSC2_000130 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+42C>T, NM_001077183.1:c.4867+42C>T, NM_001114382.1:c.4999+42C>T r.(=) p.(=)
16 Parent #2 -/- g.89877386G>C - FANCA_000052 rs139160837 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.377C>G, NM_001018112.1:c.377C>G r.(?) p.(Thr126Arg)
17 Parent #2 -/- g.7578146T>C - TP53_000002 rs34949160 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.672+31A>G, NM_001126112.2:c.672+31A>G, NM_001126113.2:c.672+31A>G, NM_001126114.2:c.672+31A>G, NM_001126115.1:c.276+31A>G, NM_001126116.1:c.276+31A>G, NM_001126117.1:c.276+31A>G, NM_001126118.1:c.555+31A>G, NM_001276695.1:c.555+31A>G, NM_001276696.1:c.555+31A>G, NM_001276697.1:c.195+31A>G, NM_001276698.1:c.195+31A>G, NM_001276699.1:c.195+31A>G, NM_001276760.1:c.555+31A>G, NM_001276761.1:c.555+31A>G r.(=) p.(=)
17 Parent #2 ./. g.58740529C>T - chr17_000001 - - - - - - - Despoina Kalfakakou PPM1D - NM_003620.3:c.1434C>T r.(=) p.(=)
Legend