Individual #00021786

Reference -
Gender F
Geographic origin Greeks of Russia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CRC, OVCA
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     
0000013814 62y - - - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013780 60y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002069 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou



Variants

19 entries on 1 page. Showing entries 1 - 19.
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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.47643544T>C - MSH2_000080 rs1553353246 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1052T>C, NM_001258281.1:c.854T>C r.(?) p.(Met351Thr), p.(Met285Thr)
2 Parent #2 -/- g.48018275A>G - MSH6_000013 rs1800933 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
2 Parent #2 -/- g.128044466G>A - ERCC3_000044 rs371396764 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1155C>T r.(=) p.(=)
6 Parent #2 ./. g.22126008G>A - chr6_000078 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.116380867T>A - MET_000002 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ?/? g.116380868A>T - MET_000003 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
9 Parent #2 -?/-? g.98220313G>A - PTCH1_000001 rs149398794 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3150C>T, NM_001083602.1:c.2952C>T, NM_001083603.1:c.3147C>T, NM_001083604.1:c.2697C>T, NM_001083605.1:c.2697C>T, NM_001083606.1:c.2697C>T, NM_001083607.1:c.2697C>T r.(=) p.(=)
9 Parent #2 -?/-? g.98232081G>A - PTCH1_000016 rs202007968 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1847+14C>T, NM_001083602.1:c.1649+14C>T, NM_001083603.1:c.1844+14C>T, NM_001083604.1:c.1394+14C>T, NM_001083605.1:c.1394+14C>T, NM_001083606.1:c.1394+14C>T, NM_001083607.1:c.1394+14C>T r.(=) p.(=)
9 Parent #2 -/- g.135804266G>A - TSC1_000005 rs62621221 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.-7C>T, NM_001162426.1:c.-7C>T, NM_001162427.1:c.-7C>T r.(=) p.(=)
12 Parent #2 ./. g.112521402G>A - chr12_000004 - - - - - - - Despoina Kalfakakou - - - -
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.(=)
16 Parent #2 ?/? g.2133670C>G - TSC2_000305 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3884-26C>G, NM_001077183.1:c.3683-26C>G, NM_001114382.1:c.3815-26C>G r.(=) p.(=)
16 Parent #2 -/- g.2134982_2134984del - TSC2_000085 rs137854239 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4524_4526del, NM_001077183.1:c.4323_4325del, NM_001114382.1:c.4455_4457del r.(?) p.(Phe1510del), p.(Phe1443del), p.(Phe1487del)
16 Parent #2 -?/-? g.2138097G>A - TSC2_000077 rs45517392 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5117G>A, NM_001077183.1:c.4916G>A, NM_001114382.1:c.5048G>A r.(?) p.(Arg1706His), p.(Arg1639His), p.(Arg1683His)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
18 Parent #1 ?/? g.48584856_48584857del - SMAD4_000008 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.904+30_904+31del r.(=) p.(=)
18 Parent #2 ?/? g.48584856_48584857dup - SMAD4_000009 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.904+30_904+31dup r.(=) p.(=)
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