Individual #00020063

Reference -
Gender M
Geographic origin Kamenianoi, Kalavryta
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BladCa, CRC, PrCa
Owner name Despoina Kalfakakou


Phenotypes

Prostate cancer (PrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012322 56y - - - Despoina Kalfakakou

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012323 74y - - No No No - Despoina Kalfakakou

Bladder Cancer (BladCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012321 51y - - Transitional Cell Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000713 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
1 Parent #2 -?/-? g.17355075A>T - SDHB_000007 rs190139590 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.423+20T>A r.(=) p.(=)
1 Parent #2 ?/? g.45798269T>C - MUTYH_000016 rs200872702 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.625A>G, NM_001048172.1:c.586A>G, NM_001048173.1:c.583A>G, NM_001048174.1:c.583A>G, NM_001128425.1:c.667A>G, NM_012222.2:c.658A>G r.(?) p.(Ile209Val), p.(Ile196Val), p.(Ile195Val), p.(Ile223Val), p.(Ile220Val)
2 Parent #2 ?/? g.48032823C>A - MSH6_000040 rs1572742021 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3623C>A, NM_001281492.1:c.3233C>A, NM_001281493.1:c.2717C>A, NM_001281494.1:c.2717C>A r.(?) p.(Ser1208Tyr), p.(Ser1078Tyr), p.(Ser906Tyr)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -/- g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.716C>T - p.?
9 Parent #2 ?/? g.98224111G>A - PTCH1_000049 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2703+27C>T, NM_001083602.1:c.2505+27C>T, NM_001083603.1:c.2700+27C>T, NM_001083604.1:c.2250+27C>T, NM_001083605.1:c.2250+27C>T, NM_001083606.1:c.2250+27C>T, NM_001083607.1:c.2250+27C>T r.(=) p.(=)
9 Parent #2 ?/? g.100447185T>C - XPA_000009 - - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.673+20A>G r.(=) p.(=)
11 Parent #2 -?/-? g.64577552C>A - MEN1_000002 rs371192390 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.30G>T, NM_130799.2:c.30G>T, NM_130800.2:c.30G>T, NM_130801.2:c.30G>T, NM_130802.2:c.30G>T, NM_130803.2:c.30G>T, NM_130804.2:c.30G>T r.(=) p.(=)
11 Parent #2 -?/-? g.108117787C>T - ATM_000113 rs28904919 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.998C>T r.(?) p.(Ser333Phe)
13 Parent #2 -?/-? g.32893474A>G - BRCA2_000038 rs186419778 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.316+12A>G r.(=) p.(=)
14 Parent #2 ?/? g.95574140T>A - DICER1_000033 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.2651-42A>T, NM_001271282.1:c.2651-42A>T, NM_030621.3:c.2651-42A>T, NM_177438.2:c.2651-42A>T r.(=) p.(=)
17 Parent #2 ?/? g.56787304G>A - RAD51C_000009 rs147241704 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.790G>A r.(?) p.(Gly264Ser)
19 Parent #2 ?/? g.45872255C>A - ERCC2_000036 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.184-5G>T, NM_001130867.1:c.112-5G>T r.spl? p.?
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