Individual #00018933

Reference -
Gender F
Geographic origin Analipsi, Trichonida, Aetolia-Acarnania
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     
0000001281 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.10091153C>T - FANCD2_000017 rs6785756 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
3 Parent #2 ./. g.14199602C>T - XPC_000024 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1670G>A, NM_004628.4:c.1781G>A r.(?) p.(Arg557His), p.(Arg594His)
3 Parent #2 ./. g.37045863C>A - MLH1_000021 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 ./. g.37048579A>G - MLH1_000018 rs4647246 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
3 Parent #2 ./. g.37067099_37067100insTAT - MLH1_000081 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-29_1039-28insTAT, NM_001167617.1:c.745-29_745-28insTAT, NM_001167618.1:c.316-29_316-28insTAT, NM_001167619.1:c.316-29_316-28insTAT, NM_001258271.1:c.1039-29_1039-28insTAT, NM_001258273.1:c.316-29_316-28insTAT, NM_001258274.1:c.316-29_316-28insTAT r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.145737136G>A - RECQL4_000147 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3431C>T - p.?
13 Parent #2 ./. g.103518193G>T - ERCC5_000045 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2131G>T r.(?) p.(Asp711Tyr)
15 Parent #2 ./. g.89857827T>C - FANCI_000086 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3721-16T>C, NM_018193.2:c.3541-16T>C r.(=) p.(=)
17 Parent #2 ./. g.7579642C>T - TP53_000011 - - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.97-52G>A, NM_001126112.2:c.97-52G>A, NM_001126113.2:c.97-52G>A, NM_001126114.2:c.97-52G>A, NM_001126115.1:c.-1109G>A, NM_001126116.1:c.-1109G>A, NM_001126117.1:c.-1109G>A, NM_001126118.1:c.-21-52G>A, NM_001276695.1:c.-21-52G>A, NM_001276696.1:c.-21-52G>A, NM_001276697.1:c.-1190G>A, NM_001276698.1:c.-1190G>A, NM_001276699.1:c.-1190G>A, NM_001276760.1:c.-21-52G>A, NM_001276761.1:c.-21-52G>A r.(=) p.(=)
17 Parent #2 ./. g.29483195G>C - NF1_000021 rs17885980 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.204+51G>C, NM_001042492.2:c.204+51G>C, NM_001128147.2:c.204+51G>C 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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