View genomic variant #0000000022

Chromosome 2
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48010431C>T
Reference -
DB-ID MSH6_000001
Frequency -
Average frequency (large NGS studies) 0.00023 View details
Owner Florian Bayersdorfer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +?/+? 1 c.59C>T r.(?) p.(Ala20Val)