Individual #00022001

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     
0000007014 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     
2 Parent #2 ?/? g.58425818T>C - FANCL_000031 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.472-21A>G, NM_018062.3:c.472-21A>G r.(=) p.(=)
2 Parent #2 ./. g.61066661G>A - chr2_000007 rs6720506 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -?/-? g.118819590C>G - EXT1_000031 - - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1749G>C r.(?) p.(Gln583His)
13 Parent #2 ?/? g.48954153C>A - RB1_000012 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
14 Parent #2 -?/-? g.45645253G>A - FANCM_000083 rs139382267 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.3296G>A r.(?) p.(Arg1099His)
16 Parent #2 -/- g.68847350C>T - CDH1_000012 rs61756284 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1272C>T r.(=) p.(=)
16 Parent #2 ?/? g.89831407C>T - FANCA_000233 rs1055448646 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2669G>A r.(?) p.(Ser890Asn)
16 Parent #2 -?/-? g.89849279C>T - FANCA_000234 rs747421581 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1614G>A r.(=) p.(=)
17 Parent #2 ?/? g.29556982A>T - NF1_000107 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2980A>T, NM_001042492.2:c.2980A>T r.(?) p.(Asn994Tyr)
17 Parent #2 ?/? g.29560194C>T - NF1_000314 rs1060500340 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3671C>T, NM_001042492.2:c.3671C>T r.(?) p.(Ala1224Val)
17 Parent #2 -/- g.41256878C>T - BRCA1_000086 rs80358113 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.301+7G>A, NM_007297.3:c.160+7G>A, NM_007298.3:c.301+7G>A, NM_007299.3:c.301+7G>A, NM_007300.3:c.301+7G>A r.(=) p.(=)
X Parent #2 ?/? g.132670361C>A - GPC3_000024 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1643-40G>T, NM_001164618.1:c.1526-40G>T, NM_001164619.1:c.1412-40G>T, NM_004484.3:c.1574-40G>T r.(=) p.(=)
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