Individual #00020708

Reference -
Gender F
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     
0000001359 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.58468474A>T - FANCL_000008 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.-26T>A, NM_018062.3:c.-26T>A r.(=) p.(=)
3 Parent #2 ./. g.52436831G>A - BAP1_000049 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1947C>T r.(=) p.(=)
5 Parent #2 ./. g.112174677T>C - APC_000027 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3386T>C, NM_001127510.2:c.3386T>C, NM_001127511.2:c.3332T>C r.(?) p.(Leu1129Ser), p.(Leu1111Ser)
8 Parent #2 ./. g.145741960C>T - RECQL4_000084 rs34159914 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.543G>A - p.?
9 Parent #2 ./. g.98209458G>A - PTCH1_000050 rs62637631 - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4080C>T, NM_001083602.1:c.3882C>T, NM_001083603.1:c.4077C>T, NM_001083604.1:c.3627C>T, NM_001083605.1:c.3627C>T, NM_001083606.1:c.3627C>T, NM_001083607.1:c.3627C>T r.(=) p.(=)
11 Parent #2 ./. g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - - - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.*5+24_*5+25insGG, NM_001122630.1:c.*5+24_*5+25insGG, NM_001122631.1:c.*5+24_*5+25insGG r.(=) p.(=)
11 Parent #2 ./. g.22647116C>A - FANCF_000002 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
11 Parent #2 ./. g.64575491C>A - MEN1_000015 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.541G>T, NM_130799.2:c.526G>T, NM_130800.2:c.541G>T, NM_130801.2:c.541G>T, NM_130802.2:c.541G>T, NM_130803.2:c.541G>T, NM_130804.2:c.541G>T r.(?) p.(Ala181Ser), p.(Ala176Ser)
14 Parent #2 ./. g.95599776T>C - DICER1_000009 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.20A>G, NM_001271282.1:c.20A>G, NM_030621.3:c.20A>G, NM_177438.2:c.20A>G r.(?) p.(Gln7Arg)
16 Parent #2 ./. g.2127709C>G - TSC2_000103 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2948C>G, NM_001077183.1:c.2837+1123C>G, NM_001114382.1:c.2948C>G r.(?), r.(=) p.(Ser983Cys), p.(=)
16 Parent #2 ./. g.2134301G>T - TSC2_000216 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4078G>T, NM_001077183.1:c.3877G>T, NM_001114382.1:c.4009G>T r.(?) p.(Glu1360*), p.(Glu1293*), p.(Glu1337*)
16 Parent #2 ./. g.23635372A>C - PALB2_000003 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2792T>G r.(?) p.(Leu931Arg)
17 Parent #2 ./. g.41226488C>A - BRCA1_000009 rs1800744 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4535G>T, NM_007297.3:c.4394G>T, NM_007298.3:c.1223G>T, NM_007299.3:c.1223G>T, NM_007300.3:c.4598G>T r.(?) p.(Ser1512Ile), p.(Ser1465Ile), p.(Ser408Ile), p.(Ser1533Ile)
17 Parent #2 ./. g.74470000A>T - RHBDF2_000013 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1575-16T>A, NM_024599.5:c.1662-16T>A r.(=) p.(=)
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