Individual #00019103

Reference -
Gender F
Geographic origin Casteli, Kissamos
Geographic origin -
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     
0000000001 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ?/? g.48030859C>A - MSH6_000002 rs370506933 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3438+35C>A, NM_001281492.1:c.3048+35C>A, NM_001281493.1:c.2532+35C>A, NM_001281494.1:c.2532+35C>A r.(=) p.(=)
3 Parent #2 -/- g.37061893T>C - MLH1_000017 rs63751049 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.977T>C, NM_001167617.1:c.683T>C, NM_001167618.1:c.254T>C, NM_001167619.1:c.254T>C, NM_001258271.1:c.977T>C, NM_001258273.1:c.254T>C, NM_001258274.1:c.254T>C r.(?) p.(Val326Ala), p.(Val228Ala), p.(Val85Ala)
8 Parent #2 ?/? g.145737041G>A - RECQL4_000019 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3503+23C>T - p.?
9 Parent #2 ?/? g.98009690A>G - FANCC_000006 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.250+24T>C, NM_001243743.1:c.250+24T>C, NM_001243744.1:c.250+24T>C r.(=) p.(=)
11 Parent #2 ?/? g.108201108T>G - ATM_000003 rs56399857 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
13 Parent #2 -?/-? g.32937456A>G - BRCA2_000010 rs80359055 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8117A>G r.(?) p.(Asn2706Ser)
16 Parent #2 -/- g.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 -/- g.3645724C>T - SLX4_000019 rs149916101 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 -/- g.3646275C>T - SLX4_000001 rs144892556 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 -/- g.3646323G>A - SLX4_000002 rs114016359 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 ?/? g.29556849T>A - NF1_000007 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2851-4T>A, NM_001042492.2:c.2851-4T>A r.spl? p.?
17 Parent #2 -?/-? g.56780681A>G - RAD51C_000002 rs786201177 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.696A>G r.(=) p.(=)
19 Parent #2 ./. g.47207685G>C - chr19_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend