Individual #00020699

Reference -
Gender F
Geographic origin -
Geographic origin -
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     
0000001341 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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     
1 Parent #2 ./. g.45798117C>T - MUTYH_000015 - - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.692G>A, NM_001048172.1:c.653G>A, NM_001048173.1:c.650G>A, NM_001048174.1:c.650G>A, NM_001128425.1:c.734G>A, NM_012222.2:c.725G>A r.(?) p.(Arg231His), p.(Arg218His), p.(Arg217His), p.(Arg245His), p.(Arg242His)
2 Parent #2 ./. g.29416833A>G - ALK_000029 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4165-45T>C r.(=) p.(=)
2 Parent #2 ./. g.47643601A>G - MSH2_000065 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1076+33A>G, NM_001258281.1:c.878+33A>G r.(=) p.(=)
2 Parent #2 ./. g.232894725G>T - DIS3L2_000051 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.301G>T, NM_001257282.1:c.301G>T, NM_152383.4:c.301G>T r.(?) p.(Ala101Ser)
9 Parent #2 ./. g.135779145del - TSC1_000052 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2101del, NM_001162426.1:c.2098del, NM_001162427.1:c.1948del r.(?) p.(Gln701Serfs*23), p.(Gln700Serfs*23), p.(Gln650Serfs*23)
14 Parent #2 ./. g.95583927T>C - DICER1_000069 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1509+32A>G, NM_001271282.1:c.1509+32A>G, NM_030621.3:c.1509+32A>G, NM_177438.2:c.1509+32A>G r.(=) p.(=)
16 Parent #2 ./. g.2137985G>A - TSC2_000032 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) 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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