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     

Subcategory     

Phenotype details     

Inheritance     

Gleason     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012322 56y - - - - Positive - - - Despoina Kalfakakou

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subcategory     

Histology     

Grade     

Stage     

LN     

MSI     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012323 74y - - Right Side Mucinous II - Negative Low No No No - Despoina Kalfakakou

Bladder Cancer (BladCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012321 51y - - - III - - - 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 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.423+20T>A r.(=) p.(=)
1 Parent #2 ./. g.45798269T>C - MUTYH_000016 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.716C>T - p.?
9 Parent #2 ./. g.98224111G>A - PTCH1_000049 - - - - - - - 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 - - - - - - - Despoina Kalfakakou XPA - NM_000380.3:c.673+20A>G r.(=) p.(=)
11 Parent #2 ./. g.64577552C>A - MEN1_000002 - - - - - - - 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 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.998C>T r.(?) p.(Ser333Phe)
13 Parent #2 ./. g.32893474A>G - BRCA2_000038 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.316+12A>G r.(=) p.(=)
14 Parent #2 ./. g.95574140T>A - DICER1_000033 - - - - - - - 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 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.790G>A r.(?) p.(Gly264Ser)
19 Parent #2 ./. g.45872255C>A - ERCC2_000036 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.184-5G>T, NM_001130867.1:c.112-5G>T r.spl? p.?
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