Variant #0000420992 (NC_000002.11:g.47630359dup, MSH2(NM_000251.2):c.29dup)

Individual ID 00195725
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47630359dup
DNA change (hg38) g.47403220dup
Published as -
ISCN -
DB-ID MSH2_001202 See all 2 reported entries
Variant remarks -
Reference PubMed: Mangold 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Michael Woods
Database submission license No license selected
Created by Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. 1 c.29dup r.(?) p.(Leu11Valfs*71)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196695 DNA ? - - MSH2 1 Michael Woods