Variant #0000006555 (NC_000010.11:g.87960915del, PTEN(NM_000314.6):c.823del)

Individual ID 00001042
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.87960915del
Reference -
DB-ID PTEN_000006
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Maria Laura Gonzalez-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
PTEN NM_000314.6 +/+ 8 c.823del p.(Val275*) Hetero N/A . -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001247 DNA SEQ-NG Dasa Genómica - Genia;INVITAE Invitae Colorectal Panel (30 genes) 19-jan-2020 Multigenetic panel - 2 Maria Laura Gonzalez-Hospital Italiano