Individual #00019806

Reference -
Gender M
Geographic origin Kymi, Euboea
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000476 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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     
2 Parent #2 ./. g.128037999C>T - ERCC3_000016 rs4150457 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1527+24G>A r.(=) p.(=)
7 Parent #2 ./. g.116423528T>C - MET_000021 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.3798+5T>C, NM_001127500.1:c.3852+5T>C r.spl? p.?
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 ./. g.98231110G>A - PTCH1_000015 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
10 Parent #2 ./. g.88681340C>T - BMPR1A_000014 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1230C>T r.(=) p.(=)
11 Parent #2 ./. g.532596G>A - HRAS_000008 rs45524036 - - - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.*40C>T, NM_005343.2:c.*5+35C>T, NM_176795.3:c.*179C>T r.(=) p.(=)
11 Parent #2 ./. g.44129413G>C - EXT2_000022 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.250G>C, NM_001178083.1:c.151G>C, NM_207122.1:c.151G>C r.(?) p.(Glu84Gln), p.(Glu51Gln)
16 Parent #2 ./. g.2129707G>A - TSC2_000098 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3397+37G>A, NM_001077183.1:c.3265+37G>A, NM_001114382.1:c.3397+37G>A r.(=) p.(=)
18 Parent #2 ./. g.48575153del - SMAD4_000017 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.347del r.(?) p.(Gln116Argfs*6)
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