Variant #0000006477 (NC_000002.12:g.47414390_47414399del, NM_000251.2:c.914_923del (MSH2))

Individual ID 00001020
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.47414390_47414399del
Reference -
DB-ID MSH2_000035
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Carlos Vaccaro-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2020-01-27 13:01:04 -02:00 (-02)
Date last edited 2020-12-22 18:06:58 -02:00 (-02)
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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 +/+ 5 c.914_923del r.(?) p.(Ala305Glufs*23) Hetero N/A -



Screenings


AscendingScreening ID     

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Technique     

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Variants found     

Owner     
0000001225 DNA SEQ CEMIC - 4-nov-2016 Known familial mutation MSH2 1 Carlos Vaccaro-Hospital Italiano