Individual #00020709

Reference -
Gender M
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     
0000001360 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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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     
1 Parent #2 -?/-? g.193219854C>A - CDC73_000018 rs193025205 - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.*12C>A r.(=) p.(=)
2 Parent #2 -/- g.47600631G>A - EPCAM_000029 rs771315207 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.106G>A r.(?) p.(Val36Ile)
2 Parent #2 ?/? g.128047101C>G - ERCC3_000005 rs4150413 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.658-24G>C - -
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
5 Parent #2 ?/? g.176637491A>G - NSD1_000039 rs766962429 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.2091A>G, NM_172349.2:c.1284A>G r.(=) p.(=)
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
10 Parent #2 ?/? g.88672188T>C - BMPR1A_000025 - - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.675+47T>C r.(=) p.(=)
13 Parent #2 ?/? g.48916887A>G - RB1_000008 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ?/? g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
13 Parent #2 -/- g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
14 Parent #2 -/- g.45606290C>T - FANCM_000011 rs77374493 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
14 Parent #2 -?/-? g.95599776T>C - DICER1_000009  rs117358479 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.20A>G, NM_001271282.1:c.20A>G, NM_030621.3:c.20A>G, NM_177438.2:c.20A>G r.(?) p.(Gln7Arg)
16 Parent #2 +/+ g.2122355_2122356insT - TSC2_000227 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2211_2212insT, NM_001077183.1:c.2211_2212insT, NM_001114382.1:c.2211_2212insT r.(?) p.(Cys738Leufs*24)
16 Parent #2 -?/-? g.23614894G>A - PALB2_000052 rs1555457863 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.3447C>T r.(=) p.(=)
16 Parent #2 ?/? g.23641096G>A - PALB2_000031 rs377626805 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2379C>T r.(=) p.(=)
18 Parent #2 ?/? g.48592017G>A - SMAD4_000030 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1139+41G>A r.(=) p.(=)
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