Individual #00019241

Reference -
Gender F
Geographic origin Ptolemaida
Geographic origin Nea Karvali, Kavala
Population Greek
Consanguinity no
Remarks -
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     
0000000107 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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     
4 Parent #2 ?/? g.41747804C>A - PHOX2B_000004 rs779171868 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.*20G>T r.(=) p.(=)
6 Parent #2 ?/? g.35424008_35424010del - FANCE_000008 rs45451605 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.733_735del r.(?) p.(Gly246del)
8 Parent #2 ?/? g.30969170A>G - WRN_000009 rs180814740 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2128A>G r.(?) p.(Ile710Val)
8 Parent #2 ?/? g.31007825_31007826insTTG - WRN_000016 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3573-32_3573-31insTTG r.(=) p.(=)
9 Parent #2 ?/? g.98209609C>A - PTCH1_000006 rs773043616 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3929G>T, NM_001083602.1:c.3731G>T, NM_001083603.1:c.3926G>T, NM_001083604.1:c.3476G>T, NM_001083605.1:c.3476G>T, NM_001083606.1:c.3476G>T, NM_001083607.1:c.3476G>T r.(?) p.(Gly1310Val), p.(Gly1244Val), p.(Gly1309Val), p.(Gly1159Val)
12 Both (homozygous) ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
14 Parent #2 ?/? g.95556856T>C - DICER1_000012 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.*95A>G, NM_001271282.1:c.5748A>G, NM_030621.3:c.5748A>G, NM_177438.2:c.5748A>G r.(=) p.(=)
15 Parent #2 -?/-? g.91354640T>G - BLM_000007 rs183176301 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
16 Parent #2 -?/-? g.89845197G>A - FANCA_000005 rs183513839 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
19 Parent #2 -?/-? g.45860637G>A - ERCC2_000008 rs558250151 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1378-8C>T, NM_001130867.1:c.*1481C>T r.(=) p.(=)
22 Parent #2 -?/-? g.29091178C>A - CHEK2_000012 rs200050883 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1441G>T, NM_001257387.1:c.649G>T, NM_007194.3:c.1312G>T, NM_145862.2:c.1225G>T r.(?) p.(Asp481Tyr), p.(Asp217Tyr), p.(Asp438Tyr), p.(Asp409Tyr)
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