Individual #00015629

Reference -
Gender F
Geographic origin Elassona, Larisa
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00015628
Panel size 2
Diseases -
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000004 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     
2 Parent #2 -?/-? g.47604162G>A - EPCAM_000003 rs754990754 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.501G>A r.(=) p.(=)
2 Parent #2 ?/? g.48030528_48030529insA - MSH6_000010 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3173-31_3173-30insA, NM_001281492.1:c.2783-31_2783-30insA, NM_001281493.1:c.2267-31_2267-30insA, NM_001281494.1:c.2267-31_2267-30insA r.(=) p.(=)
3 Parent #2 -?/-? g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.74C>T, NM_198156.2:c.74C>T r.(?) p.(Pro25Leu)
3 Parent #2 -?/-? g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.501G>A r.(=) p.(=)
3 Parent #2 ./. g.169082678T>C - chr3_000002 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108186610G>A - ATM_000002 rs11212587 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6067G>A r.(?) p.(Gly2023Arg)
16 Parent #2 ?/? g.23635372A>C - PALB2_000003 rs773831304 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2792T>G r.(?) p.(Leu931Arg)
Legend