Individual #00020695

Reference -
Gender M
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     
0000001328 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     
3 Parent #2 ./. g.14219932G>C - XPC_000010 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.103+34C>G, NM_004628.4:c.103+34C>G r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067103del - MLH1_000058 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
3 Parent #2 ./. g.37067306G>A - MLH1_000010 rs41294980 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1217G>A, NM_001167617.1:c.923G>A, NM_001167618.1:c.494G>A, NM_001167619.1:c.494G>A, NM_001258271.1:c.1217G>A, NM_001258273.1:c.494G>A, NM_001258274.1:c.494G>A r.(?) p.(Ser406Asn), p.(Ser308Asn), p.(Ser165Asn)
7 Parent #2 ./. g.55248991C>G - EGFR_000061 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2289C>G r.(=) p.(=)
11 Parent #2 ./. g.22646670T>A - FANCF_000020 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.687A>T r.(=) p.(=)
16 Parent #2 ./. g.2134717G>A - TSC2_000217 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4493+1G>A, NM_001077183.1:c.4292+1G>A, NM_001114382.1:c.4424+1G>A r.spl? 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.(=)
X Both (homozygous) ./. g.67021528G>A - chrX_000007 - - - - - - - Despoina Kalfakakou - - - -
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