Individual #00020191

Reference -
Gender F
Geographic origin Platanos, Crete
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00020190
Panel size 2
Diseases -
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001381 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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.29445192G>A - ALK_000008 rs79325200 - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3515+18C>T r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.145740753G>A - RECQL4_000142 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1347C>T - p.?
8 Parent #2 ./. g.145742479C>T - RECQL4_000032 rs4251688 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.309G>A - p.?
9 Both (homozygous) ./. g.35079502G>A - FANCG_000006 rs35984312 - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.20C>T r.(?) p.(Ser7Phe)
11 Parent #2 ./. g.32456784C>G - WT1_000005 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
11 Parent #2 ./. g.44228342G>C - EXT2_000038 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1595-1G>C, NM_001178083.1:c.1526-1G>C, NM_207122.1:c.1496-1G>C r.spl? p.?
13 Parent #2 ./. g.32937708G>A - BRCA2_000190 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8331+38G>A r.(=) p.(=)
16 Parent #2 ./. g.2122392del - TSC2_000019 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2220+28del, NM_001077183.1:c.2220+28del, NM_001114382.1:c.2220+28del r.(=) p.(=)
16 Parent #2 ./. g.89866055A>G - FANCA_000153 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.793-9T>C, NM_001018112.1:c.793-9T>C r.(=) p.(=)
17 Parent #2 ./. g.29552280C>T - NF1_000012 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2001+12C>T, NM_001042492.2:c.2001+12C>T, NM_001128147.2:c.*3272C>T r.(=) p.(=)
17 Parent #2 ./. g.29556390T>C - NF1_000059 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2757T>C, NM_001042492.2:c.2757T>C r.(=) p.(=)
17 Parent #2 ./. g.29683646G>A - NF1_000031 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7675+46G>A, NM_001042492.2:c.7738+46G>A r.(=) p.(=)
17 Parent #2 ./. g.56780704T>C - RAD51C_000027 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.705+14T>C r.(=) p.(=)
19 Parent #2 ./. g.45855801del - ERCC2_000059 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2009del r.(?) p.(Gly670Alafs*39)
X Parent #2 ./. g.14883079C>A - FANCB_000023 - - - - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.554G>T, NM_152633.2:c.554G>T r.(?) p.(Gly185Val)
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