Variant #0000357546 (NC_000002.11:g.48018161_48018164del, MSH6(NM_000179.2):c.356_359del)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48018161_48018164del
DNA change (hg38) g.47791022_47791025del
Published as -
ISCN -
DB-ID MSH6_000098 See all 2 reported entries
Variant remarks -
Reference DUPLICATE – to be removed
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 2 c.356_359del r.(?) p.(Phe119Serfs*29)