Variant #0000003271 (NC_000010.11:g.87960891delT, PTEN(NM_000314.6):c.802-3del)

Individual ID 00000406
Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.87960891delT
Reference -
DB-ID PTEN_000001 See all 7 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gonzalo Tabares-CEMA
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)     

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Co_ocurrence     

RNA change     

Review status     
PTEN NM_000314.6 -?/-? 7i c.802-3del . Hetero no . -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000459 DNA SEQ-NG;z-score-CNV Héritas - 19-jul-2017 Multigenetic panel ATM, BRCA1, BRCA2, CDH1, CHEK2, MSH6, PALB2, PTEN, RAD51D, TP53 25 Gonzalo Tabares-CEMA