Variant #0000357065 (NC_000002.11:g.48024402T>C, MSH6(NM_000179.2):c.627+1200T>C)

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.48024402T>C
DNA change (hg38) g.47797263T>C
Published as -
ISCN -
DB-ID MSH6_000603 See all 2 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) 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 -/- 3i c.627+1200T>C r.(=) p.(=)