Individual #00019272

Reference -
Gender F
Geographic origin Trikala
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000246 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.10130481T>A - FANCD2_000035 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3561-31T>A, NM_033084.3:c.3561-31T>A r.(=) p.(=)
7 Parent #2 ?/? g.55229188G>A - EGFR_000032 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1499-4G>A, NM_201282.1:c.1499-4G>A, NM_201283.1:c.*4652G>A, NM_201284.1:c.1499-4G>A r.spl?, r.(=) p.?, p.(=)
7 Parent #2 +/+ g.66456289C>T - SBDS_000008 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.460-1G>A r.spl? p.?
9 Parent #2 ?/? g.98244532A>C - PTCH1_000030 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.585-47T>G, NM_001083602.1:c.387-47T>G, NM_001083603.1:c.582-47T>G, NM_001083604.1:c.132-47T>G, NM_001083605.1:c.132-47T>G, NM_001083606.1:c.132-47T>G, NM_001083607.1:c.132-47T>G r.(=) p.(=)
9 Parent #2 ?/? g.135777958C>T - TSC1_000002 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2391+34G>A, NM_001162426.1:c.2388+34G>A, NM_001162427.1:c.2238+34G>A r.(=) p.(=)
10 Parent #2 ?/? g.104375123A>G - SUFU_000010 rs1265012285 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1121A>G, NM_016169.3:c.1121A>G r.(?) p.(Asn374Ser)
16 Parent #2 -/- g.2121911C>T - TSC2_000017 rs45512398 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2073C>T, NM_001077183.1:c.2073C>T, NM_001114382.1:c.2073C>T r.(=) p.(=)
Legend