Individual #00020703

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     
0000001352 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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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     
2 Parent #2 ?/? g.233195376T>C - DIS3L2_000076 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12679T>C, NM_152383.4:c.1924-24T>C r.(=) p.(=)
3 Parent #2 -?/-? g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1891-30G>C r.(=) p.(=)
3 Parent #2 -/- g.52439240T>C - BAP1_000002 rs28997577 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1002A>G r.(=) p.(=)
3 Parent #2 -?/-? g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.660-26T>A r.(=) p.(=)
4 Parent #1 ./. g.100239319T>A - chr4_000015 rs1229984 - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.100239319T>C - chr4_000016 rs1229984 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -?/-? g.145739416C>T - RECQL4_000041 rs61754061 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1954G>A - p.?
9 Parent #2 -?/-? g.98209479C>T - PTCH1_000087 rs368110756 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4059G>A, NM_001083602.1:c.3861G>A, NM_001083603.1:c.4056G>A, NM_001083604.1:c.3606G>A, NM_001083605.1:c.3606G>A, NM_001083606.1:c.3606G>A, NM_001083607.1:c.3606G>A r.(=) p.(=)
10 Parent #2 ?/? g.88683405T>C - BMPR1A_000031 - - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1528T>C r.(?) p.(Ser510Pro)
11 Both (homozygous) ?/? g.2906221_2906226del - CDKN1C_000011 rs878853627 - Germline - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.494_499del, NM_001122630.1:c.461_466del, NM_001122631.1:c.461_466del r.(?) p.(Val165_Ala166del), p.(Val154_Ala155del)
14 Parent #2 -?/-? g.95598970A>G - DICER1_000068 rs1555376403 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.189T>C, NM_001271282.1:c.189T>C, NM_030621.3:c.189T>C, NM_177438.2:c.189T>C r.(=) p.(=)
16 Parent #2 ?/? g.2106819G>A - TSC2_000229 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.774+49G>A, NM_001077183.1:c.774+49G>A, NM_001114382.1:c.774+49G>A r.(=) p.(=)
16 Parent #2 ?/? g.2110677G>C - TSC2_000231 rs45517152 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.982G>C, NM_001077183.1:c.982G>C, NM_001114382.1:c.982G>C r.(?) p.(Ala328Pro)
17 Parent #2 -?/-? g.7579599G>A - TP53_000003 rs202217267 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.97-9C>T, NM_001126112.2:c.97-9C>T, NM_001126113.2:c.97-9C>T, NM_001126114.2:c.97-9C>T, NM_001126115.1:c.-1066C>T, NM_001126116.1:c.-1066C>T, NM_001126117.1:c.-1066C>T, NM_001126118.1:c.-21-9C>T, NM_001276695.1:c.-21-9C>T, NM_001276696.1:c.-21-9C>T, NM_001276697.1:c.-1147C>T, NM_001276698.1:c.-1147C>T, NM_001276699.1:c.-1147C>T, NM_001276760.1:c.-21-9C>T, NM_001276761.1:c.-21-9C>T r.(=) p.(=)
17 Parent #2 ?/? g.29556383T>A - NF1_000238 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2750T>A, NM_001042492.2:c.2750T>A r.(?) p.(Val917Asp)
17 Parent #2 ?/? g.29557990G>A - NF1_000171 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3197+47G>A, NM_001042492.2:c.3197+47G>A r.(=) p.(=)
17 Parent #2 ?/? g.29585402T>C - NF1_000235 rs1186560791 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4151T>C, NM_001042492.2:c.4214T>C r.(?) p.(Val1384Ala), p.(Val1405Ala)
17 Parent #2 +/+ g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.181T>G, NM_007297.3:c.40T>G, NM_007298.3:c.181T>G, NM_007299.3:c.181T>G, NM_007300.3:c.181T>G r.(?) p.(Cys61Gly), p.(Cys14Gly)
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