Individual #00020710

Reference -
Gender M
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases -
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001361 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.58468447A>G - FANCL_000013 rs761291501 - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.2T>C, NM_018062.3:c.2T>C r.? p.?
3 Parent #2 ?/? g.52437356A>C - BAP1_000022 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1730-42T>G r.(=) p.(=)
7 Parent #2 ?/? g.55259373G>A - EGFR_000021 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2470-39G>A r.(=) p.(=)
8 Parent #2 ?/? g.145740297T>C - RECQL4_000097 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1620+23A>G - p.?
9 Parent #2 -?/-? g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4324C>T, NM_001083602.1:c.4126C>T, NM_001083603.1:c.4321C>T, NM_001083604.1:c.3871C>T, NM_001083605.1:c.3871C>T, NM_001083606.1:c.3871C>T, NM_001083607.1:c.3871C>T r.(?) p.(Arg1442Trp), p.(Arg1376Trp), p.(Arg1441Trp), p.(Arg1291Trp)
16 Parent #2 -/- g.2112989G>A - TSC2_000161 rs137854154 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1378G>A, NM_001077183.1:c.1378G>A, NM_001114382.1:c.1378G>A r.(?) p.(Ala460Thr)
16 Parent #2 ?/? g.2138294_2138311del - TSC2_000221 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5227_5244del, NM_001077183.1:c.5026_5043del, NM_001114382.1:c.5158_5175del r.(?) p.(His1746_Arg1751del), p.(His1679_Arg1684del), p.(His1723_Arg1728del)
16 Parent #2 +/+ g.23641218G>A [Vagena et al. 2019] PALB2_000012 rs180177110 - Germline - - - Yes Despoina Kalfakakou PALB2 - NM_024675.3:c.2257C>T r.(?) p.(Arg753*)
16 Parent #2 -?/-? g.68842578C>T - CDH1_000008 rs200673941 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.532-18C>T r.(=) p.(=)
19 Parent #2 ?/? g.33792939G>A - CEBPA_000003 rs1362518517 - Germline - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.382C>T r.(?) p.(Pro128Ser)
19 Parent #2 ./. g.51364644C>T - chr19_000012 - - - - - - - Despoina Kalfakakou - - - -
21 Parent #2 -/- g.36259125T>C - RUNX1_000006 rs199881885 - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.270+15A>G, NM_001122607.1:c.270+15A>G, NM_001754.4:c.351+15A>G r.(=) p.(=)
Legend