Individual #00020725

Reference -
Gender F
Geographic origin -
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     
0000001396 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.30143004G>T - ALK_000059 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.522C>A r.(?) p.(Phe174Leu)
5 Parent #2 ./. g.176715770del - NSD1_000006 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6152-50del, NM_172349.2:c.5345-50del r.(=) p.(=)
8 Parent #2 ./. g.145736954_145736955insAC - RECQL4_000033 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3504-17_3504-16insGT - p.?
10 Parent #2 ./. g.72357857T>C - PRF1_000001 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1620A>G, NM_005041.4:c.1620A>G r.(=) p.(=)
11 Parent #2 ./. g.108139364_108139365insA - ATM_000046 rs2234995 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2838+28_2838+29insA r.(=) p.(=)
11 Parent #2 ./. g.108180917T>C - ATM_000069 rs3092910 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5793T>C r.(=) p.(=)
11 Parent #2 ./. g.108201108T>G - ATM_000003 rs56399857 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
11 Parent #2 ./. g.108236264C>G - ATM_000080 rs3218711 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.*29C>G r.(=) p.(=)
13 Parent #2 ./. g.32911271A>G - BRCA2_000020 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2779A>G r.(?) p.(Met927Val)
15 Parent #2 ./. g.40512921A>G - BUB1B_000050 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.3114A>G r.(=) p.(=)
16 Parent #2 ./. g.2108785_2108786del - TSC2_000238 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.886_887del, NM_001077183.1:c.886_887del, NM_001114382.1:c.886_887del r.(?) p.(Phe298Cysfs*39)
16 Parent #2 ./. g.3632298T>G - SLX4_000099 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.*45A>C r.(=) p.(=)
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ./. g.23634337G>A - PALB2_000057 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2949C>T r.(=) p.(=)
Legend