Variant #0000789132 (NC_000002.11:g.(?_47630331)_(47657081_47672686)del, MSH2(NM_000251.2):c.(?_-125)_(1276+1_1277-1)del)

Individual ID 00375847
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_47630331)_(47657081_47672686)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID MSH2_000038 See all 23 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Treena Cranston
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_7 c.(?_-125)_(1276+1_1277-1)del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377043 DNA SEQ - year test performed: 2019; 7 gene 'Lynch-like' panel includes MLH1, MSH2, MSH6 and PMS2 - 1 Treena Cranston