Variant #0000357078 (NC_000002.11:g.48025764C>T, MSH6(NM_000179.2):c.642C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48025764C>T
DNA change (hg38) g.47798625C>T
Published as -
ISCN -
DB-ID MSH6_000161 See all 49 reported entries
Variant remarks Insight class: 1
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.07176 View details
Owner InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 -/- 4 c.642C>T r.(=) p.(=)