Individual #00020188

Reference -
Gender F
Geographic origin Alexandria, Egypt
Geographic origin Serres
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases -
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001375 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.45796272A>C - MUTYH_000023 - - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1435-43T>G, NM_001048172.1:c.1396-43T>G, NM_001048173.1:c.1393-43T>G, NM_001048174.1:c.1393-43T>G, NM_001128425.1:c.1477-43T>G, NM_012222.2:c.1468-43T>G r.(=) p.(=)
1 Parent #2 ./. g.45805858C>A - MUTYH_000046 - - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.36+33G>T, NM_001048172.1:c.-217G>T, NM_001048173.1:c.-217G>T, NM_001048174.1:c.-294G>T, NM_001128425.1:c.36+33G>T, NM_012222.2:c.36+33G>T r.(=) p.(=)
3 Parent #2 ./. g.37067120_37067121insTTTTTTA - MLH1_000062 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-8_1039-7insTTTTTTA, NM_001167617.1:c.745-8_745-7insTTTTTTA, NM_001167618.1:c.316-8_316-7insTTTTTTA, NM_001167619.1:c.316-8_316-7insTTTTTTA, NM_001258271.1:c.1039-8_1039-7insTTTTTTA, NM_001258273.1:c.316-8_316-7insTTTTTTA, NM_001258274.1:c.316-8_316-7insTTTTTTA r.(=) p.(=)
4 Parent #2 ./. g.55564422A>G - KIT_000049 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.338-28A>G, NM_001093772.1:c.338-28A>G r.(=) p.(=)
8 Parent #2 ./. g.118831965G>A - EXT1_000024 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1486C>T r.(?) p.(Pro496Ser)
8 Parent #2 ./. g.128518586G>A - chr8_000036 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.100455941A>T - XPA_000020 - - - - - - - Despoina Kalfakakou XPA - NM_000380.3:c.273T>A r.(=) p.(=)
10 Parent #2 ./. g.88683209T>G - BMPR1A_000005 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1419T>G r.(=) p.(=)
13 Parent #2 ./. g.103518949C>T - ERCC5_000029 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2320-33C>T r.(=) p.(=)
16 Parent #2 ./. g.2138432C>T - TSC2_000002 rs45517416 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5260-15C>T, NM_001077183.1:c.5059-15C>T, NM_001114382.1:c.5191-15C>T r.(=) p.(=)
16 Parent #2 ./. g.89836654C>A - FANCA_000056 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2236G>T r.(?) p.(Ala746Ser)
17 Parent #2 ./. g.59760948A>G - BRIP1_000010 rs4987050 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.3459T>C r.(=) p.(=)
Legend