Variant #0000000089 (NC_000002.11:g.48025816C>T, MSH6(NM_000179.2):c.694C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48025816C>T
Reference -
DB-ID MSH6_000003
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/+ 4 c.694C>T r.(?) p.(Gln232*)