Genomic variant #0000425844

Individual ID 00202031
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47630263_47657080del
DNA change (hg38) -
Published as (?_-68)_1276+?del Deletion exons 1–7
ISCN -
DB-ID MSH2_001645 See all 3 reported entries
Variant remarks -
Reference PubMed: Lagerstedt-Robinson 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Kristina Lagerstedt Robinson




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 +/. - c.(?_-68)_1276+?del pathogenic r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203062 DNA ? - - - 1 Kristina Lagerstedt Robinson