Individual #00019974

Reference -
Gender M
Geographic origin Albania
Geographic origin -
Population Albanian
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     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012194 37y - - - Adenomatous, Tubular Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000621 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.45796894_45796896del - MUTYH_000068 - - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1392_1394del, NM_001048172.1:c.1353_1355del, NM_001048173.1:c.1350_1352del, NM_001048174.1:c.1350_1352del, NM_001128425.1:c.1434_1436del, NM_012222.2:c.1425_1427del r.(?) p.(Glu466del), p.(Glu453del), p.(Glu452del), p.(Glu480del), p.(Glu477del)
1 Parent #2 ./. g.45798475T>C - MUTYH_000032 rs34612342 - - - - - - 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 #2 ./. g.10094195T>A - FANCD2_000011 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
3 Parent #2 ./. g.37067092_37067100del - MLH1_000054 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-36_1039-28del, NM_001167617.1:c.745-36_745-28del, NM_001167618.1:c.316-36_316-28del, NM_001167619.1:c.316-36_316-28del, NM_001258271.1:c.1039-36_1039-28del, NM_001258273.1:c.316-36_316-28del, NM_001258274.1:c.316-36_316-28del r.(=) p.(=)
3 Parent #2 ./. g.37089130A>G - MLH1_000012 rs35001569 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1852A>G, NM_001167617.1:c.1558A>G, NM_001167618.1:c.1129A>G, NM_001167619.1:c.1129A>G, NM_001258271.1:c.1852A>G, NM_001258273.1:c.1129A>G, NM_001258274.1:c.1129A>G r.(?) p.(Lys618Glu), p.(Lys520Glu), p.(Lys377Glu)
3 Parent #2 ./. g.37089131A>C - MLH1_000015 rs63750449 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1853A>C, NM_001167617.1:c.1559A>C, NM_001167618.1:c.1130A>C, NM_001167619.1:c.1130A>C, NM_001258271.1:c.1853A>C, NM_001258273.1:c.1130A>C, NM_001258274.1:c.1130A>C r.(?) p.(Lys618Thr), p.(Lys520Thr), p.(Lys377Thr)
6 Parent #2 ./. g.160833623T>C - chr6_000026 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.533418T>G - HRAS_000012 - - - - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.450+35A>C, NM_005343.2:c.450+35A>C, NM_176795.3:c.450+35A>C r.(=) p.(=)
11 Parent #2 ./. g.47256343G>A - DDB2_000002 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.738G>A r.(=) p.(=)
11 Parent #2 ./. g.111958677A>G - SDHD_000003 rs11214077 - - - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
15 Parent #2 ./. g.91334091T>C - BLM_000003 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3019+17T>C r.(=) p.(=)
17 Parent #2 ./. g.41243509T>C - BRCA1_000035 rs28897689 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4039A>G, NM_007297.3:c.3898A>G, NM_007298.3:c.788-460A>G, NM_007299.3:c.788-460A>G, NM_007300.3:c.4039A>G r.(?), r.(=) p.(Arg1347Gly), p.(Arg1300Gly), p.(=)
17 Parent #2 ./. g.74473698C>A - RHBDF2_000003 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
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