Variant #0000357605 (NC_000002.11:g.48010523_48010539dup, MSH6(NM_000179.2):c.151_167dup)

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.48010523_48010539dup
DNA change (hg38) g.47783384_47783400dup
Published as -
ISCN -
DB-ID MSH6_000178 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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 1 c.151_167dup r.(?) p.(Pro57Alafs*30)