Individual #00017417

Reference -
Gender F
Geographic origin Eretria
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases BrCa, TRC
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     
0000009880 37y - - - - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009881 37y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001075 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
3 Parent #2 -/- g.37067100_37067101insATA - MLH1_000078 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-28_1039-27insATA, NM_001167617.1:c.745-28_745-27insATA, NM_001167618.1:c.316-28_316-27insATA, NM_001167619.1:c.316-28_316-27insATA, NM_001258271.1:c.1039-28_1039-27insATA, NM_001258273.1:c.316-28_316-27insATA, NM_001258274.1:c.316-28_316-27insATA r.(=) p.(=)
5 Parent #2 -?/-? g.112179153C>G - APC_000015 rs72541816 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.7862C>G, NM_001127510.2:c.7862C>G, NM_001127511.2:c.7808C>G r.(?) p.(Ser2621Cys), p.(Ser2603Cys)
12 Parent #2 ?/? g.121416568A>G - HNF1A_000032 rs561269721 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.-4A>G r.(=) p.(=)
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.48953701C>T - RB1_000010 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1333-29C>T r.(=) p.(=)
13 Parent #2 -/- g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
15 Parent #2 ?/? g.91341406C>G - BLM_000068 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3211-14C>G r.(=) p.(=)
16 Parent #2 ?/? g.2103372C>T - TSC2_000039 rs45517098 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 -/- g.2138086C>A - TSC2_000033 rs45483700 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5106C>A, NM_001077183.1:c.4905C>A, NM_001114382.1:c.5037C>A r.(=) p.(=)
17 Parent #2 -?/-? g.17125907G>A - FLCN_000035  rs754710935 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.687C>T, NM_144997.5:c.687C>T r.(=) p.(=)
17 Parent #2 ?/? g.29592335A>G - NF1_000071 rs199474766 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4750A>G, NM_001042492.2:c.4813A>G r.(?) p.(Ile1584Val), p.(Ile1605Val)
17 Parent #2 ?/? g.59820324C>T - BRIP1_000047 - - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2379+50G>A r.(=) p.(=)
17 Parent #2 -?/-? g.74470194C>A - RHBDF2_000006 rs11553545 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1495G>T, NM_024599.5:c.1582G>T r.(?) p.(Asp499Tyr), p.(Asp528Tyr)
22 Parent #2 -?/-? g.29090054G>A - CHEK2_000049  rs142763740 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1556C>T, NM_001257387.1:c.764C>T, NM_007194.3:c.1427C>T, NM_145862.2:c.1340C>T r.(?) p.(Thr519Met), p.(Thr255Met), p.(Thr476Met), p.(Thr447Met)
Legend