Individual #00019912

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


Phenotypes

Lung Cancer (LuCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

Subtype     

Owner     
0000012117 54y - - - I - I NSCLC 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     
0000012118 61y - - Right Side - II III Negative Low Yes No No - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

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Subtype     

Owner     
0000012119 61y - - - Tubular Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012120 61y - - - Tubular Despoina Kalfakakou

Nodules (NDL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012121 61y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000553 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
1 Parent #2 ./. g.161332245A>G - SDHC_000007 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.368A>G, NM_001035512.1:c.*22A>G, NM_001035513.1:c.*22A>G, NM_001278172.1:c.266A>G, NM_003001.3:c.*22A>G r.(?), r.(=) p.(His123Arg), p.(=), p.(His89Arg)
2 Parent #2 ./. g.48033791_48033792insTAAC - MSH6_000035 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.4001+1_4001+2insTAAC, NM_001281492.1:c.3611+1_3611+2insTAAC, NM_001281493.1:c.3095+1_3095+2insTAAC, NM_001281494.1:c.3095+1_3095+2insTAAC r.(=) p.(=)
2 Parent #2 ./. g.58390217T>A - FANCL_000022 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.791-8A>T, NM_018062.3:c.776-8A>T r.(=) p.(=)
8 Parent #2 ./. g.30982426T>G - WRN_000057 rs11574323 - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2735T>G r.(?) p.(Ile912Ser)
14 Parent #2 ./. g.45633764A>C - FANCM_000046 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1784A>C r.(?) p.(Glu595Ala)
15 Parent #2 ./. g.89807795A>G - FANCI_000047 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.712A>G, NM_018193.2:c.712A>G r.(?) p.(Ser238Gly)
15 Parent #2 ./. g.91304534A>G - BLM_000042 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1882+49A>G r.(=) p.(=)
16 Parent #2 ./. g.68842571T>C - CDH1_000034 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.532-25T>C r.(=) p.(=)
17 Parent #2 ./. g.29663623_29663624insA - NF1_000119 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6085-30_6085-29insA, NM_001042492.2:c.6148-30_6148-29insA r.(=) p.(=)
18 Parent #2 ./. g.43317004C>T - chr18_000002 - - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 ./. g.30038259C>T - NF2_000016 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.432C>T, NM_016418.5:c.432C>T, NM_181825.2:c.432C>T, NM_181828.2:c.306C>T, NM_181829.2:c.309C>T, NM_181830.2:c.183C>T, NM_181831.2:c.183C>T, NM_181832.2:c.432C>T, NM_181833.2:c.432C>T r.(=) p.(=)
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