Individual #00017267

Reference -
Gender F
Geographic origin Meligalas, Messinia
Geographic origin Platsa, Messinia
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     
0000009676 61y - - - - Despoina Kalfakakou
0000009677 71y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000926 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     
2 Parent #2 ?/? g.47656986T>G - MSH2_000053 rs374135434 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1182T>G, NM_001258281.1:c.984T>G r.(?) p.(Phe394Leu), p.(Phe328Leu)
2 Parent #2 -?/-? g.48026190T>C - MSH6_000051 rs749752524 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.1068T>C, NM_001281492.1:c.678T>C, NM_001281493.1:c.162T>C, NM_001281494.1:c.162T>C r.(=) p.(=)
3 Parent #2 ?/? g.14208620T>C - XPC_000036 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.510+49A>G, NM_004628.4:c.621+49A>G r.(=) p.(=)
7 Parent #2 ?/? g.6042238G>A - PMS2_000050 rs116373169 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.383C>T r.(?) p.(Ser128Leu)
11 Parent #2 ?/? g.44255660G>A - EXT2_000024 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1906-5G>A, NM_001178083.1:c.1837-5G>A, NM_207122.1:c.1807-5G>A r.spl? p.?
13 Parent #2 ?/? g.32905084A>G - BRCA2_000137 rs730881506 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.710A>G r.(?) p.(Asp237Gly)
15 Parent #2 ?/? g.89811698T>C - FANCI_000072 rs142906652 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.824T>C, NM_018193.2:c.824T>C r.(?) p.(Ile275Thr)
15 Parent #2 -?/-? g.91306338G>A - BLM_000021 rs781424357 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2025G>A r.(=) p.(=)
16 Parent #2 ?/? g.2138352G>A - TSC2_000169 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5259+26G>A, NM_001077183.1:c.5058+26G>A, NM_001114382.1:c.5190+26G>A r.(=) p.(=)
16 Parent #2 ?/? g.14028153G>C - ERCC4_000014 rs751348446 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1207G>C r.(?) p.(Gly403Arg)
16 Parent #2 ?/? g.89838267G>C - FANCA_000059 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2015-45C>G r.(=) p.(=)
Legend