Variant #0000001854 (NC_000002.12:g.47805474G>A, MSH6(NM_000179.2):c.3557-144G>A)

Individual ID 00000153
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.47805474G>A
Reference -
DB-ID MSH6_000013 See all 18 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     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
MSH6 NM_000179.2 ./. 6i c.3557-144G>A r.(=) p.(=) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

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