Individual #00019774

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


Phenotypes

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     
0000012000 64y - - Right Side Mucinous II - Positive - No No No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000461 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
2 Parent #2 ./. g.233199473G>A - DIS3L2_000004 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 ./. g.37067102T>A - MLH1_000007 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-26T>A, NM_001167617.1:c.745-26T>A, NM_001167618.1:c.316-26T>A, NM_001167619.1:c.316-26T>A, NM_001258271.1:c.1039-26T>A, NM_001258273.1:c.316-26T>A, NM_001258274.1:c.316-26T>A r.(=) p.(=)
8 Parent #2 ./. g.30915988A>G - WRN_000048 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.25A>G r.(?) p.(Thr9Ala)
8 Parent #2 ./. g.145738566C>T - RECQL4_000037 rs36115640 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+35G>A - p.?
10 Parent #2 ./. g.43601969C>T - RET_000034 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1013C>T, NM_020975.4:c.1013C>T r.(?) p.(Thr338Ile)
11 Parent #2 ./. g.32417962A>G - WT1_000001 rs5030274 - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.1048-9T>C, NM_001198551.1:c.463-9T>C, NM_001198552.1:c.412-9T>C, NM_024424.3:c.1099-9T>C, NM_024426.4:c.1099-9T>C r.(=) p.(=)
11 Parent #2 ./. g.108117692T>G - ATM_000089 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.903T>G r.(=) p.(=)
13 Parent #2 ./. g.49039095del - RB1_000023 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ./. g.49039095dup - RB1_000022 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
15 Parent #2 ./. g.91292772A>G - BLM_000018 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.274A>G r.(?) p.(Asn92Asp)
16 Parent #2 ./. g.2138351C>T - TSC2_000091 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5259+25C>T, NM_001077183.1:c.5058+25C>T, NM_001114382.1:c.5190+25C>T r.(=) p.(=)
16 Parent #2 ./. g.89813093G>C - FANCA_000036 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3412C>G r.(?) p.(Leu1138Val)
22 Parent #2 ./. g.30035225C>A - NF2_000012 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.363+24C>A, NM_016418.5:c.363+24C>A, NM_181825.2:c.363+24C>A, NM_181828.2:c.237+24C>A, NM_181829.2:c.240+2360C>A, NM_181830.2:c.115-2966C>A, NM_181831.2:c.115-2966C>A, NM_181832.2:c.363+24C>A, NM_181833.2:c.363+24C>A r.(=) p.(=)
Legend