Variant #0000007196 (NC_000007.14:g.5987144T>C, PMS2(NM_000535.5):c.1621A>G)

Individual ID 00001280
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.5987144T>C
Reference -
DB-ID PMS2_000009 See all 49 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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     

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DNA change (cDNA)     

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RNA change     

Review status     
PMS2 NM_000535.5 -/- 11 c.1621A>G p.(Lys541Glu) Homo no r.(?) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001519 DNA CNV;SEQ-NG IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) 28-mar-2018 Multigenetic panel - 28 Silvina Sisterna-Hospital de Comunidad