Individual #00019826

Reference -
Gender M
Geographic origin Drama
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CRC, Polyposis
Owner name Despoina Kalfakakou


Phenotypes

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     
0000012040 69y - - Yes No No - Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012041 69y - - Tubulovillous Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000490 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou
0000006180 DNA MLPA 1 - 0 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
10 Parent #2 -?/-? g.104263915G>T - SUFU_000012 rs746555296 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.6G>T, NM_016169.3:c.6G>T r.(=) p.(=)
11 Parent #2 ?/? g.32437998A>G - WT1_000013 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.950+1125T>C, NM_001198551.1:c.365+38T>C, NM_001198552.1:c.314+1125T>C, NM_024424.3:c.1001+38T>C, NM_024426.4:c.1001+38T>C r.(=) p.(=)
11 Parent #2 -?/-? g.95550956C>G - CEP57_000008 rs201373134 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.483C>G, NM_001243777.1:c.510C>G, NM_014679.4:c.510C>G r.(=) p.(=)
13 Parent #2 ?/? g.103506615T>G - ERCC5_000037 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.381-23T>G r.(=) p.(=)
14 Parent #2 ?/? g.45628392C>T - FANCM_000039 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1490C>T r.(?) p.(Ser497Leu)
16 Parent #2 -?/-? g.89825107G>C - FANCA_000016 rs149112292 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2859C>G r.(?) p.(Asp953Glu)
16 Parent #2 -?/-? g.89874755C>T - FANCA_000071 rs143314367 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.543G>A, NM_001018112.1:c.543G>A r.(=) p.(=)
22 Parent #2 -?/-? g.24145622C>T - SMARCB1_000001 rs184021903 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.601+13C>T, NM_003073.3:c.628+13C>T r.(=) p.(=)
Legend