Variant #0000370672 (NC_000002.11:g.47635538A>G, MSH2(NM_000251.2):c.212-2A>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47635538A>G
DNA change (hg38) g.47408399A>G
Published as -
ISCN -
DB-ID MSH2_000072 See all 6 reported entries
Variant remarks Insight class: 4
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 +?/+? 1i c.212-2A>G r.spl p.?