Individual #00020210

Reference -
Gender F
Geographic origin Nafplion
Geographic origin Thiva
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     
0000001444 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.128047101C>G - ERCC3_000005 rs4150413 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.658-24G>C r.(=) p.(=)
2 Parent #2 ./. g.233164782C>T - DIS3L2_000070 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1581+36710C>T, NM_152383.4:c.1692C>T r.(=) p.(=)
5 Parent #2 ./. g.112173250G>A - APC_000010 rs72541809 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
10 Parent #2 ./. g.72358477C>T - PRF1_000002 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1000G>A, NM_005041.4:c.1000G>A r.(?) p.(Gly334Ser)
10 Parent #2 ./. g.89690764A>G - PTEN_000007 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
11 Parent #2 ./. g.47256343G>A - DDB2_000002 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.738G>A r.(=) p.(=)
17 Parent #2 ./. g.29422306G>C - NF1_000020 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.-22G>C, NM_001042492.2:c.-22G>C, NM_001128147.2:c.-22G>C r.(=) p.(=)
17 Parent #2 ./. g.29683646G>A - NF1_000031 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7675+46G>A, NM_001042492.2:c.7738+46G>A r.(=) p.(=)
Legend