Individual #00021938

Reference -
Gender F
Geographic origin Ioannina
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00021937
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     
0000007495 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.29446229C>T - ALK_000009 rs199987354 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3338G>A - -
2 Parent #2 ./. g.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.37061771G>C - MLH1_000141 rs374860412 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.885-30G>C, NM_001167617.1:c.591-30G>C, NM_001167618.1:c.162-30G>C, NM_001167619.1:c.162-30G>C, NM_001258271.1:c.885-30G>C, NM_001258273.1:c.162-30G>C, NM_001258274.1:c.162-30G>C r.(=) p.(=)
3 Parent #2 -?/-? g.52436459T>G - BAP1_000012 rs144083199 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.2057-22A>C r.(=) p.(=)
6 Parent #2 ./. g.160833647A>G - chr6_000027 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.5070872del - chr9_000007 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 -/- g.135772014C>T - TSC1_000026 rs118203742 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.3103G>A, NM_001162426.1:c.3100G>A, NM_001162427.1:c.2950G>A r.(?) p.(Gly1035Ser), p.(Gly1034Ser), p.(Gly984Ser)
16 Parent #2 ?/? g.2100512A>G - TSC2_000150 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.225+25A>G, NM_001077183.1:c.225+25A>G, NM_001114382.1:c.225+25A>G r.(=) p.(=)
17 Parent #2 ?/? g.41258590T>A - BRCA1_000020 - - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.135-40A>T, NM_007297.3:c.-7-40A>T, NM_007298.3:c.135-40A>T, NM_007299.3:c.135-40A>T, NM_007300.3:c.135-40A>T r.(=) p.(=)
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