Individual #00017428

Reference -
Gender F
Geographic origin Athens
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00017427
Panel size 1
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001096 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
7 Parent #2 ?/? g.55273277C>T - EGFR_000057 rs776176376 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3600C>T r.(=) p.(=)
7 Parent #2 ?/? g.148512675C>T - EZH2_000004 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1491-37G>A, NM_001203248.1:c.1464-37G>A, NM_001203249.1:c.1464-37G>A, NM_004456.4:c.1506-37G>A, NM_152998.2:c.1374-37G>A r.(=) p.(=)
8 Parent #2 -?/-? g.90967602A>G - NBN_000034 rs375885975 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1306T>C r.(=) p.(=)
10 Parent #2 -?/-? g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
10 Parent #2 -?/-? g.89690764A>G - PTEN_000007 rs370918174 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
12 Parent #2 ./. g.112241811G>T - chr12_000003 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 +/+ g.45658326C>T - FANCM_000076 rs147021911 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5101C>T r.(?) p.(Gln1701*)
15 Parent #2 ./. g.78908082_78908084del - chr15_000005 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #1 ./. g.78908084dup - chr15_000003 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.2105571C>T - TSC2_000008 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.599+51C>T, NM_001077183.1:c.599+51C>T, NM_001114382.1:c.599+51C>T r.(=) p.(=)
16 Parent #2 -?/-? g.50816225A>C - CYLD_000025 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.1676-11A>C, NM_001042412.1:c.1676-11A>C, NM_015247.2:c.1685-11A>C r.(=) p.(=)
16 Parent #2 -/- g.89813093G>C - FANCA_000036 rs138417003 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3412C>G r.(?) p.(Leu1138Val)
Legend