Variant #0000357053 (NC_000002.11:g.(48018263_48023032)_(48023203_48025749)del, MSH6(NM_000179.2):c.(457+1_458-1)_(627+1_628-1)del)

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.(48018263_48023032)_(48023203_48025749)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID MSH6_000336 See all 8 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) 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 +/+ 2i_3i c.(457+1_458-1)_(627+1_628-1)del r.(?) p.(Ser154Argfs*8)