Variant #0000747439 (NC_000002.11:g.47630340C>A, MSH2(NM_000251.2):c.10C>A)

Individual ID 00346578
Chromosome 2
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.47630340C>A
DNA change (hg38) -
Published as chr2_47630340_C_A
ISCN -
DB-ID MSH2_001907 See all 2 reported entries
Variant remarks not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
Reference PubMed: Dorling 2021, Journal: Dorling 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/60466 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner BRIDGES consortium
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 ?/. - c.10C>A r.(?) p.(Gln4Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000347808 DNA SEQ-NG - 34-gene panel MSH2 1 BRIDGES consortium