Individual #00019280

Reference -
Gender F
Geographic origin Constantinople
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     
0000000278 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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     
1 Parent #2 ./. g.193107338T>C - CDC73_000006 - - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.512+35T>C r.(=) p.(=)
3 Parent #2 ./. g.37067094_37067102del - MLH1_000003 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.55561757C>T - KIT_000018 rs72549301 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.147C>T, NM_001093772.1:c.147C>T r.(=) p.(=)
9 Parent #2 ./. g.98231110G>A - PTCH1_000015 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
11 Parent #2 ./. g.22646984C>T - FANCF_000001 rs61752920 - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
11 Parent #2 ./. g.108201108T>G - ATM_000003 rs56399857 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ./. g.89836990C>T - FANCA_000057 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2204G>A r.(?) p.(Ser735Asn)
17 Parent #2 ./. g.33430578G>A - RAD51D_000003 - - - - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.637-15C>T, NM_002878.3:c.577-15C>T, NM_133629.2:c.241-15C>T r.(=) p.(=)
17 Parent #2 ./. g.74469685_74469686insG - RHBDF2_000017 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1733+44_1733+45insC, NM_024599.5:c.1820+44_1820+45insC r.(=) p.(=)
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