Individual #00016823

Reference -
Gender F
Geographic origin Chania
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 6
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     
0000009080 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000544 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     
3 Parent #2 -/- g.37061893T>C - MLH1_000017 rs63751049 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.977T>C, NM_001167617.1:c.683T>C, NM_001167618.1:c.254T>C, NM_001167619.1:c.254T>C, NM_001258271.1:c.977T>C, NM_001258273.1:c.254T>C, NM_001258274.1:c.254T>C r.(?) p.(Val326Ala), p.(Val228Ala), p.(Val85Ala)
8 Parent #2 -/- g.145739917T>C - RECQL4_000015 rs373357384 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-8A>G - p.?
9 Parent #2 ?/? g.100449367del - XPA_000008 - - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.555+11del r.(=) p.(=)
11 Parent #2 ?/? g.108150304A>T - ATM_000030 rs876660498 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3371A>T r.(?) p.(Tyr1124Phe)
13 Parent #2 -?/-? g.32914450C>T - BRCA2_000093 rs746347650 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5958C>T r.(=) p.(=)
13 Parent #2 +/+ g.32936658A>T - BRCA2_000007 rs81002836 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7806-2A>T r.spl? p.?
16 Parent #2 ?/? g.2122392del - TSC2_000019 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2220+28del, NM_001077183.1:c.2220+28del, NM_001114382.1:c.2220+28del r.(=) p.(=)
16 Parent #2 -?/-? g.23646141_23646142insTCA - PALB2_000005 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
16 Parent #2 ?/? g.89815201G>A - FANCA_000039 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ?/? g.89831482_89831483del - FANCA_000043 rs577636020 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
22 Parent #2 ?/? g.29092985A>C - CHEK2_000030 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1138-10T>G, NM_001257387.1:c.346-10T>G, NM_007194.3:c.1009-10T>G, NM_145862.2:c.1009-1124T>G r.(=) p.(=)
Legend