Variant #0000008126 (NC_000007.14:g.6003481C>T, PMS2(NM_000535.5):c.353+209G>A)

Individual ID 00001447
Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.6003481C>T
Reference -
DB-ID PMS2_000045
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
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
PMS2 NM_000535.5 -/- 4i c.353+209G>A p.(=) Homo no r.(=) -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000001702 DNA SEQ-NG Biogenotec Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM) 22-nov-2019 Multigenetic panel - 52 Laura Vargas Roig-IMBECU

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