Individual #00020212

Reference -
Gender F
Geographic origin Armenia
Geographic origin Pontus
Population Armenian-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     
0000001448 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.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 -?/-? g.47698179A>G - MSH2_000003 rs61756467 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
7 Parent #2 ?/? g.55242393C>G - EGFR_000068 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2185-22C>G, NM_201284.1:c.*4156C>G r.(=) p.(=)
13 Parent #2 ?/? g.32914500T>C - BRCA2_000193 rs80358837 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6008T>C r.(?) p.(Ile2003Thr)
13 Parent #2 ?/? g.103518949C>T - ERCC5_000029 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2320-33C>T r.(=) p.(=)
15 Parent #2 ?/? g.89848496C>T - FANCI_000100 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3186+23C>T, NM_018193.2:c.3006+23C>T r.(=) p.(=)
22 Parent #2 ?/? g.24145444G>A - SMARCB1_000018 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.474-38G>A, NM_003073.3:c.501-38G>A r.(=) p.(=)
Legend