Individual #00020192

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     
0000001382 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
Legend  

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.(=)
8 Parent #2 ./. g.145740753G>A - RECQL4_000142 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1347C>T - p.?
9 Parent #2 ./. g.35079502G>A - FANCG_000006 rs35984312 - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.20C>T r.(?) p.(Ser7Phe)
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.?
11 Parent #2 ./. g.108201108T>G - ATM_000003 rs56399857 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
13 Parent #2 ./. g.32937708G>A - BRCA2_000190 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8331+38G>A r.(=) p.(=)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ./. g.68835754G>A - CDH1_000006 rs1801023 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.29556201C>G - NF1_000006 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
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.33434359C>A - RAD51D_000018 - - - - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.405+26G>T, NM_002878.3:c.345+26G>T, NM_133629.2:c.145-859G>T r.(=) p.(=)
17 Parent #2 ./. g.56780704T>C - RAD51C_000027 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.705+14T>C r.(=) p.(=)
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)
Legend