Variant #0000005719 (NC_000007.14:g.5987522C>T, PMS2(NM_000535.5):c.1243G>A)

Individual ID 00000798
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.5987522C>T
Reference -
DB-ID PMS2_000027
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
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     

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Review status     
PMS2 NM_000535.5 ?/? 11 c.1243G>A p.(Val415Met) Hetero no r.(?) -



Screenings


AscendingScreening ID     

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Owner     
0000000926 DNA SEQ-NG Héritas Panel Héritas (BRCA1,BRCA2,PTEN,TP53,ATM,CDH1,CHEK2,NBN,NF1,STK11,BRIP1,RAD51C,RAD51D,MLH1,MSH2,MSH6,PMS2,EPCAM,APC,MUTYH,BMPR1A,SMAD4,CDKN2A,CDK4) 29-jun-2018 Multigenetic panel - 7 Laura Vargas Roig-IMBECU