Individual #00016380

Reference -
Gender F
Geographic origin Niata, Laconia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000008433 49y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000101 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.14219932G>C - XPC_000010 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.103+34C>G, NM_004628.4:c.103+34C>G r.(=) p.(=)
3 Parent #2 -?/-? g.37089130A>G - MLH1_000012 rs35001569 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1852A>G, NM_001167617.1:c.1558A>G, NM_001167618.1:c.1129A>G, NM_001167619.1:c.1129A>G, NM_001258271.1:c.1852A>G, NM_001258273.1:c.1129A>G, NM_001258274.1:c.1129A>G r.(?) p.(Lys618Glu), p.(Lys520Glu), p.(Lys377Glu)
3 Parent #2 -/- g.37089131A>C - MLH1_000015 rs63750449 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1853A>C, NM_001167617.1:c.1559A>C, NM_001167618.1:c.1130A>C, NM_001167619.1:c.1130A>C, NM_001258271.1:c.1853A>C, NM_001258273.1:c.1130A>C, NM_001258274.1:c.1130A>C r.(?) p.(Lys618Thr), p.(Lys520Thr), p.(Lys377Thr)
5 Parent #2 -?/-? g.112174802C>T - APC_000008 rs201830995 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3511C>T, NM_001127510.2:c.3511C>T, NM_001127511.2:c.3457C>T r.(?) p.(Arg1171Cys), p.(Arg1153Cys)
13 Parent #2 -/- g.32912750G>T - BRCA2_000026 rs28897727 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4258G>T r.(?) p.(Asp1420Tyr)
13 Parent #2 +/+ g.32950929G>A - BRCA2_000012 rs397508006 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8754+1G>A r.spl? p.?
13 Parent #2 ?/? g.48939097G>A - RB1_000009 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.929G>A r.(?) p.(Gly310Glu)
16 Parent #2 -/- g.68847350C>T - CDH1_000012 rs61756284 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1272C>T r.(=) p.(=)
17 Parent #2 +?/+? g.41197790C>T [Papamentzelopoulou et al. 2019] BRCA1_000015 rs80357268 - Germline - - - Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5497G>A, NM_007297.3:c.5356G>A, NM_007298.3:c.2185G>A, NM_007299.3:c.*11G>A, NM_007300.3:c.5560G>A r.(?), r.(=) p.(Val1833Met), p.(Val1786Met), p.(Val729Met), p.(=), p.(Val1854Met)
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