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     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012000 64y - - 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.
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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     
2 Parent #2 ?/? g.233199473G>A - DIS3L2_000004 - - Germline - - - - 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 rs1360955428 - Germline - - - - 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 rs757791580 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.25A>G r.(?) p.(Thr9Ala)
8 Parent #2 ?/? g.145738566C>T - RECQL4_000037 rs36115640 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+35G>A - p.?
10 Parent #2 ?/? g.43601969C>T - RET_000034 rs377767433 - Germline - - - - 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 - - Germline - - - - 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 rs876659335 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.903T>G r.(=) p.(=)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
15 Parent #2 ?/? g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.274A>G r.(?) p.(Asn92Asp)
16 Parent #2 -?/-? g.2138351C>T - TSC2_000091 rs201329593 - Germline - - - - 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 rs138417003 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3412C>G r.(?) p.(Leu1138Val)
22 Parent #2 ?/? g.30035225C>A - NF2_000012 rs373867916 - Germline - - - - 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.(=)
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