Individual #00019971

Reference -
Gender M
Geographic origin Grevena
Geographic origin Asia Minor
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     
0000012190 29y - - No No No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000618 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.29416152C>T - ALK_000028 rs376702277 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4801G>A r.(?) p.(Ala1601Thr)
2 Parent #2 -/- g.232889039C>T - DIS3L2_000052 rs202059499 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.263C>T, NM_001257282.1:c.263C>T, NM_152383.4:c.263C>T r.(?) p.(Pro88Leu)
8 Parent #2 +/+ g.30938706del - WRN_000060 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1163del r.(?) p.(Arg389Glufs*4)
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
10 Parent #2 -?/-? g.104357064C>T - SUFU_000003 rs202247757 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
13 Parent #2 -/- g.32968810T>C - BRCA2_000013 rs11571818 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 -/- g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
14 Parent #2 ?/? g.45644860A>G - FANCM_000021 rs752962214 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2903A>G r.(?) p.(Tyr968Cys)
14 Parent #2 ?/? g.95566069_95566082del - DICER1_000030 rs201969638 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.4206+35_4206+48del, NM_001271282.1:c.4206+35_4206+48del, NM_030621.3:c.4206+35_4206+48del, NM_177438.2:c.4206+35_4206+48del r.(=) p.(=)
14 Parent #1 ?/? g.95566081_95566082dup - DICER1_000031 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.4206+35_4206+36dup, NM_001271282.1:c.4206+35_4206+36dup, NM_030621.3:c.4206+35_4206+36dup, NM_177438.2:c.4206+35_4206+36dup r.(=) p.(=)
15 Parent #2 -/- g.89850836T>C - FANCI_000003 rs185599057 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3592-8T>C, NM_018193.2:c.3412-8T>C r.(=) p.(=)
16 Parent #2 -/- g.2121911C>T - TSC2_000017 rs45512398 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2073C>T, NM_001077183.1:c.2073C>T, NM_001114382.1:c.2073C>T r.(=) p.(=)
17 Parent #2 -?/-? g.59760948A>G - BRIP1_000010 rs4987050 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.3459T>C r.(=) p.(=)
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