Individual #00020706

Reference -
Gender M
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     
0000001356 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
3 Parent #2 ?/? g.10103811T>A - FANCD2_000014 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1767-24T>A, NM_033084.3:c.1767-24T>A r.(=) p.(=)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - 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.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
4 Parent #2 -?/-? g.55598152C>T - KIT_000005 rs151046591 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2349C>T, NM_001093772.1:c.2337C>T r.(=) p.(=)
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 +/+ g.135779797C>G - TSC1_000053 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2041+1G>C, NM_001162426.1:c.2038+1G>C, NM_001162427.1:c.1888+1G>C r.spl? p.?
11 Parent #2 -?/-? g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
16 Parent #2 ?/? g.3650977T>C - SLX4_000113 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1163+3A>G r.spl? p.?
17 Parent #2 +/+ g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.181T>G, NM_007297.3:c.40T>G, NM_007298.3:c.181T>G, NM_007299.3:c.181T>G, NM_007300.3:c.181T>G r.(?) p.(Cys61Gly), p.(Cys14Gly)
X Both (homozygous) -/- g.14863136A>G - FANCB_000015 rs142959373 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1769T>C, NM_152633.2:c.1769T>C r.(?) p.(Phe590Ser)
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