Variant #0000357055 (NC_000002.11:g.48023042C>G, MSH6(NM_000179.2):c.467C>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48023042C>G
DNA change (hg38) g.47795903C>G
Published as -
ISCN -
DB-ID MSH6_000046 See all 21 reported entries
Variant remarks Insight class: 5
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner InSiGHT - John-Paul Plazzer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/+ 3 c.467C>G r.(?) p.(Ser156*)