Individual #00020228

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     
0000006964 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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     
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -?/-? g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
13 Parent #2 +/+ g.32911298_32911301del - BRCA2_000238 rs80359351 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2808_2811del r.(?) p.(Ala938Profs*21)
16 Parent #2 -/- g.2106725C>G - TSC2_000043 rs45473698 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.729C>G, NM_001077183.1:c.729C>G, NM_001114382.1:c.729C>G r.(=) p.(=)
16 Parent #2 ?/? g.3639991C>A - SLX4_000102  rs139544666 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3648G>T r.(?) p.(Gln1216His)
16 Parent #2 -/- g.89871703T>G - FANCA_000049 rs61757384 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.694A>C, NM_001018112.1:c.694A>C r.(=) p.(=)
22 Parent #2 -?/-? g.29091178C>A - CHEK2_000012 rs200050883 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1441G>T, NM_001257387.1:c.649G>T, NM_007194.3:c.1312G>T, NM_145862.2:c.1225G>T r.(?) p.(Asp481Tyr), p.(Asp217Tyr), p.(Asp438Tyr), p.(Asp409Tyr)
Legend