Genomic variant #0000371493

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.47629898T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID MSH2_001224 See all 3 reported entries
Variant remarks Insight class: 1
Reference InSiGHT
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 -/- 1 c.-433T>G InSiGHT: 1 r.(?) p.(=)