View individual #00000459

Ethnic origin Unknown
Reference -
Panel size 1
Diseases -
Owner name Pablo Kalfayan-CEMIC


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000516 DNA SEQ-NG CEMIC - 12-jul-2017 - TP53 4 Pablo Kalfayan-CEMIC



Variants

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     

Gene     

Effect     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
17 Unknown g.7673183G>A Reclassified June 2019 TP53_000010 Pablo Kalfayan-CEMIC TP53 ?/-? 9i NM_000546.5:c.993+352C>T p.(=) Hetero no r.(=) -
17 Unknown g.7674797T>C - TP53_000003 Pablo Kalfayan-CEMIC TP53 -/- 6i NM_000546.5:c.672+62A>G p.(=) Homo no r.(=) -
17 Unknown g.7675327C>T - TP53_000002 Pablo Kalfayan-CEMIC TP53 ?/- 4i NM_000546.5:c.376-91G>A p.(=) Homo no r.(=) -
17 Unknown g.7676154G>C - TP53_000001 Pablo Kalfayan-CEMIC TP53 -/- 4 NM_000546.5:c.215C>G p.(Pro72Arg) Homo no r.(?) -
Legend