Individual #00017555

Reference -
Gender F
Geographic origin Izmir
Geographic origin Phocis
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     
0000010058 41y - - - - Despoina Kalfakakou
0000010059 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001223 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.48028282A>T - MSH6_000066 rs267608075 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3160A>T, NM_001281492.1:c.2770A>T, NM_001281493.1:c.2254A>T, NM_001281494.1:c.2254A>T r.(?) p.(Ile1054Phe), p.(Ile924Phe), p.(Ile752Phe)
3 Parent #2 ?/? g.10091163A>T - FANCD2_000018 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1519A>T, NM_033084.3:c.1519A>T r.(?) p.(Met507Leu)
5 Parent #2 -?/-? g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.705A>G, NM_001127510.2:c.705A>G, NM_001127511.2:c.676-8774A>G r.(=) p.(=)
8 Parent #2 ?/? g.145737373C>T - RECQL4_000021 rs36078464 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3315G>A - p.?
9 Parent #2 ?/? g.100459596T>C - XPA_000010 rs759397961 - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.-22A>G r.(=) p.(=)
11 Parent #2 -/- g.44129781G>C - EXT2_000026 rs148121594 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.618G>C, NM_001178083.1:c.519G>C, NM_207122.1:c.519G>C r.(=) p.(=)
11 Parent #2 ?/? g.111959558C>T - SDHD_000009 - - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.169+861C>T, NM_001276504.1:c.53-33C>T, NM_001276506.1:c.170-33C>T, NM_003002.3:c.170-33C>T r.(=) p.(=)
12 Parent #2 -?/-? g.121437091G>A - HNF1A_000038 rs483353044 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1522G>A r.(?) p.(Glu508Lys)
Legend