Variant #0000357015 (NC_000002.11:g.48010496C>T, MSH6(NM_000179.2):c.124C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48010496C>T
DNA change (hg38) g.47783357C>T
Published as -
ISCN -
DB-ID MSH6_000727 See all 4 reported entries
Variant remarks Insight class: 3
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 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 ?/? 1 c.124C>T r.(?) p.(Pro42Ser)