Individual #00020723

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     
0000006986 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.48028136G>A - MSH6_000105 rs587782324 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3014G>A, NM_001281492.1:c.2624G>A, NM_001281493.1:c.2108G>A, NM_001281494.1:c.2108G>A r.(?) p.(Arg1005Gln), p.(Arg875Gln), p.(Arg703Gln)
2 Parent #2 ?/? g.48030646C>A - MSH6_000053 rs63750753 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3260C>A, NM_001281492.1:c.2870C>A, NM_001281493.1:c.2354C>A, NM_001281494.1:c.2354C>A r.(?) p.(Pro1087His), p.(Pro957His), p.(Pro785His)
2 Parent #2 ?/? g.128044511A>G - ERCC3_000017 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1110T>C r.(=) p.(=)
2 Parent #2 ?/? g.233199473G>A - DIS3L2_000004 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
4 Parent #2 -?/-? g.55524168T>A - KIT_000001 rs140909964 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.-14T>A, NM_001093772.1:c.-14T>A r.(=) p.(=)
8 Parent #2 ?/? g.30969247G>A - WRN_000134 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2205G>A r.(=) p.(=)
16 Parent #2 ?/? g.50818324A>G - CYLD_000042 rs748879155 - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.1902A>G, NM_001042412.1:c.1902A>G, NM_015247.2:c.1911A>G r.(=) p.(=)
16 Parent #2 ?/? g.68863644C>T - CDH1_000072 - - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2383C>T r.(?) p.(Pro795Ser)
16 Parent #2 -/- g.89805045A>C - FANCA_000019 rs149531696 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4332T>G r.(=) p.(=)
16 Parent #2 ?/? g.89831407C>T - FANCA_000233 rs1055448646 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2669G>A r.(?) p.(Ser890Asn)
16 Parent #2 -?/-? g.89849279C>T - FANCA_000234 rs747421581 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1614G>A r.(=) p.(=)
16 Parent #2 ./. g.89986122C>A - chr16_000004 - - - - - - - Despoina Kalfakakou - - - -
Legend