Variant #0000001842 (NC_000002.12:g.47409926C>T, MSH2(NM_000251.2):c.367-168C>T)

Individual ID 00000153
Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.47409926C>T
Reference -
DB-ID MSH2_000018 See all 2 reported entries
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     

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DNA change (cDNA)     

RNA change     

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Review status     
MSH2 NM_000251.2 -?/? 2i c.367-168C>T r.(=) p.(=) Hetero no RECLASSIFIED MARCH 2018



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000249 DNA SEQ-NG Genia - 30-jun-2017 - EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 37 Maria Laura Gonzalez-Hospital Italiano