Individual #00020701

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     
0000001346 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     
2 Parent #2 -/- g.47698108T>C - MSH2_000026 rs61756466 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
8 Parent #2 -?/-? g.145739339G>A - RECQL4_000012 rs749542193 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2031C>T - p.?
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
11 Parent #2 -?/-? g.108186610G>A - ATM_000002 rs11212587 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6067G>A r.(?) p.(Gly2023Arg)
11 Parent #2 ?/? g.108199710T>G - ATM_000166 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7090-38T>G r.(=) p.(=)
15 Parent #2 -/- g.89838176T>G - FANCI_000010 rs145762491 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
15 Parent #2 -?/-? g.91354640T>G - BLM_000007 rs183176301 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
16 Parent #2 ?/? g.89813209G>C - FANCA_000099 rs34398412 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3408+30C>G r.(=) p.(=)
17 Parent #2 -?/-? g.41228641G>A - BRCA1_000034 rs80358111 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4358-10C>T, NM_007297.3:c.4217-10C>T, NM_007298.3:c.1049-13C>T, NM_007299.3:c.1049-13C>T, NM_007300.3:c.4424-13C>T r.(=) 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)
17 Parent #2 ?/? g.66520112G>A - PRKAR1A_000001 rs28730841 - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.441-45G>A, NM_001276290.1:c.441-45G>A, NM_002734.4:c.441-45G>A, NM_212471.2:c.441-45G>A, NM_212472.2:c.441-45G>A r.(=) p.(=)
18 Parent #2 ?/? g.48593590_48593591del - SMAD4_000011 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1308+33_1308+34del r.(=) p.(=)
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