Individual #00020187

Reference -
Gender F
Geographic origin Ilia
Geographic origin Amarynthos, Euboea
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     
0000001371 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.29445294G>A - ALK_000079 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3451-20C>T r.(=) p.(=)
3 Parent #2 ?/? g.10183789C>G - VHL_000005 rs781063331 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.258C>G, NM_198156.2:c.258C>G r.(=) p.(=)
3 Parent #2 -?/-? g.52440828A>T - BAP1_000050 rs753960146 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.659+17T>A r.(=) p.(=)
6 Parent #2 ?/? g.35420304G>C - FANCE_000006 rs13215706 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
8 Parent #2 ?/? g.145738804C>T - RECQL4_000034 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2261G>A - p.?
11 Parent #2 -/- g.44228488C>T - EXT2_000004 rs75987184 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1740C>T, NM_001178083.1:c.1671C>T, NM_207122.1:c.1641C>T r.(=) p.(=)
13 Parent #2 -/- g.32912750G>T - BRCA2_000026 rs28897727 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4258G>T r.(?) p.(Asp1420Tyr)
15 Parent #2 -/- g.89828441C>T - FANCI_000034 rs117125761 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1813C>T, NM_018193.2:c.1813C>T r.(?) p.(Leu605Phe)
17 Parent #2 -?/-? g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.790C>T r.(?) p.(Arg264Trp)
20 Parent #2 ./. g.60921022C>A - chr20_000003 - - - - - - - Despoina Kalfakakou - - - -
X Parent #2 -?/-? g.14861834T>C - FANCB_000022 rs780116069 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.2435A>G, NM_152633.2:c.2435A>G r.(?) p.(Tyr812Cys)
Legend