Variant #0000425833 (NC_000002.11:g.(?_47630263)_(47643569_47656880)del, MSH2(NM_000251.2):c.(?_-68)_(1076+1_1077-1)del)

Individual ID 00202020
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.(?_47630263)_(47643569_47656880)del
DNA change (hg38) -
Published as (?_-68)_1076+?del Deletion exons 1–6
ISCN -
DB-ID MSH2_001644 See all 11 reported entries
Variant remarks -
Reference PubMed: Lagerstedt-Robinson 2016
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 Kristina Lagerstedt Robinson
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 +/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203051 DNA ? - - - 1 Kristina Lagerstedt Robinson