Individual #00021997

Reference -
Gender F
Geographic origin -
Geographic origin -
Population -
Consanguinity -
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007010 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
5 Parent #2 ?/? g.176710953C>T - NSD1_000108 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6151+24C>T, NM_172349.2:c.5344+24C>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
8 Parent #2 -?/-? g.145741168G>C - RECQL4_000025 rs560681030 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1238C>G - p.?
8 Parent #2 -?/-? g.145741169C>T - RECQL4_000026 rs531310005 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1237G>A - p.?
11 Parent #2 -?/-? g.108186610G>A - ATM_000002 rs11212587 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6067G>A r.(?) p.(Gly2023Arg)
12 Parent #2 -?/-? g.58144552A>T - CDK4_000018 rs587780667 - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.523-4T>A r.spl? p.?
16 Parent #2 ?/? g.2136922_2136923insT - TSC2_000219 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4989+50_4989+51insT, NM_001077183.1:c.4788+50_4788+51insT, NM_001114382.1:c.4920+50_4920+51insT r.(=) p.(=)
16 Parent #2 ?/? g.3639713G>A - SLX4_000154 rs556682517 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3926C>T r.(?) p.(Ser1309Phe)
16 Parent #2 -/- g.14015932C>T - ERCC4_000001 rs3136056 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
17 Parent #2 -/- g.7578146T>C - TP53_000002 rs34949160 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.672+31A>G, NM_001126112.2:c.672+31A>G, NM_001126113.2:c.672+31A>G, NM_001126114.2:c.672+31A>G, NM_001126115.1:c.276+31A>G, NM_001126116.1:c.276+31A>G, NM_001126117.1:c.276+31A>G, NM_001126118.1:c.555+31A>G, NM_001276695.1:c.555+31A>G, NM_001276696.1:c.555+31A>G, NM_001276697.1:c.195+31A>G, NM_001276698.1:c.195+31A>G, NM_001276699.1:c.195+31A>G, NM_001276760.1:c.555+31A>G, NM_001276761.1:c.555+31A>G r.(=) p.(=)
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