Individual #00019365

Reference -
Gender F
Geographic origin Florina
Geographic origin Boeotia
Population Greek
Consanguinity no
Remarks -
Panel size 1
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     
0000000660 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.233199445C>T - DIS3L2_000049 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8610C>T, NM_152383.4:c.2394C>T r.(=) p.(=)
3 Parent #2 ./. g.37067095A>T - MLH1_000004 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33A>T, NM_001167617.1:c.745-33A>T, NM_001167618.1:c.316-33A>T, NM_001167619.1:c.316-33A>T, NM_001258271.1:c.1039-33A>T, NM_001258273.1:c.316-33A>T, NM_001258274.1:c.316-33A>T r.(=) p.(=)
7 Parent #2 ./. g.116422030C>G - MET_000001 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.3523-12C>G, NM_001127500.1:c.3577-12C>G r.(=) p.(=)
10 Parent #2 ./. g.88679220T>G - BMPR1A_000017 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1160T>G r.(?) p.(Phe387Cys)
11 Parent #2 ./. g.533516C>T - HRAS_000010 - - - - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.387G>A, NM_005343.2:c.387G>A, NM_176795.3:c.387G>A r.(=) p.(=)
16 Parent #2 ./. g.2134982_2134984del - TSC2_000085 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4524_4526del, NM_001077183.1:c.4323_4325del, NM_001114382.1:c.4455_4457del r.(?) p.(Phe1510del), p.(Phe1443del), p.(Phe1487del)
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.(=)
17 Parent #2 ./. g.74468870G>A - RHBDF2_000029 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1962C>T, NM_024599.5:c.2049C>T r.(=) p.(=)
17 Parent #2 ./. g.74473078C>T - RHBDF2_000018 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.949G>A, NM_024599.5:c.1036G>A r.(?) p.(Gly317Arg), p.(Gly346Arg)
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