Variant #0000420455 (NC_000002.11:g.47630349_47630350insT, MSH2(NM_000251.2):c.19_20insT)

Individual ID 00188692
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.47630349_47630350insT
DNA change (hg38) g.47403210_47403211insT
Published as -
ISCN -
DB-ID MSH2_000147
Variant remarks Submitted by ICCon South Australia
Reference -
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 ICCon
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by 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.19_20insT r.(?) p.(Glu7Valfs*75)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189661 DNA SEQ - - MSH2 1 ICCon