Variant #0000370606 (NC_000002.11:g.47630464C>T, MSH2(NM_000251.2):c.134C>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.47630464C>T
DNA change (hg38) g.47403325C>T
Published as -
ISCN -
DB-ID MSH2_000007 See all 10 reported entries
Variant remarks Insight class: 3
Reference InSiGHT
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     
MSH2 NM_000251.2 ?/? 1 c.134C>T r.(?) p.(Ala45Val)