Variant #0000001146 (NC_000002.12:g.47474899A>T, MSH2(NM_000251.2):c.1760-126A>T)

Individual ID 00000158
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.47474899A>T
Reference -
DB-ID MSH2_000015
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     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
MSH2 NM_000251.2 ?/- 11i c.1760-126A>T r.(=) p.(=) Hetero no RECLASSIFIED JULY 2022



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000178 DNA SEQ-NG Genia - 27-mar-2017 - MLH1, MSH2, MSH6, MUTYH, PMS2 31 Maria Laura Gonzalez-Hospital Italiano