Individual #00020052

Reference -
Gender F
Geographic origin Chryso, Evrytania
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012305 65y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000701 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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 Both (homozygous) +/+ g.45798475T>C - MUTYH_000032 rs34612342 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.494A>G, NM_001048172.1:c.455A>G, NM_001048173.1:c.452A>G, NM_001048174.1:c.452A>G, NM_001128425.1:c.536A>G, NM_012222.2:c.527A>G r.(?) p.(Tyr165Cys), p.(Tyr152Cys), p.(Tyr151Cys), p.(Tyr179Cys), p.(Tyr176Cys)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
6 Parent #2 ?/? g.35420304G>C - FANCE_000006 rs13215706 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
7 Both (homozygous) -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
8 Parent #2 ?/? g.31030472T>C - WRN_000039 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.4192-39T>C r.(=) p.(=)
9 Parent #2 -?/-? g.97912348C>T - FANCC_000024 rs758919360 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.543G>A, NM_001243743.1:c.543G>A, NM_001243744.1:c.543G>A r.(=) p.(=)
9 Parent #2 -/- g.98209458G>A - PTCH1_000050 rs62637631 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4080C>T, NM_001083602.1:c.3882C>T, NM_001083603.1:c.4077C>T, NM_001083604.1:c.3627C>T, NM_001083605.1:c.3627C>T, NM_001083606.1:c.3627C>T, NM_001083607.1:c.3627C>T r.(=) p.(=)
13 Parent #2 -/- g.32912560G>A - BRCA2_000025 rs28897724 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4068G>A r.(=) p.(=)
15 Parent #2 -/- g.89828320C>A - FANCI_000032 rs28446881 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1699-7C>A, NM_018193.2:c.1699-7C>A r.(=) p.(=)
15 Parent #2 ?/? g.89847054T>C - FANCI_000037 rs28517718 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3007-41T>C, NM_018193.2:c.2827-41T>C r.(=) p.(=)
16 Parent #2 -?/-? g.14041570T>C - ERCC4_000004 rs1800069 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2117T>C r.(?) p.(Ile706Thr)
16 Parent #2 ?/? g.50784110G>A - CYLD_000018 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.501G>A, NM_001042412.1:c.501G>A, NM_015247.2:c.501G>A r.(=) p.(=)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
19 Parent #2 ?/? g.1226675G>A - STK11_000022 - - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.*16+13G>A r.(=) p.(=)
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