Genomic variant #0000420838

Individual ID 00195574
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47628578_47638433del
DNA change (hg38) -
Published as Deletion of Exon 1-3; g.26444511_26454366 (del 9855)
ISCN -
DB-ID MSH2_001625 See all 3 reported entries
Variant remarks -
Reference PubMed: Stella 2007
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 Michael Woods




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 +/. 1_3i c.-1753_645+922del pathogenic r.spl p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196544 DNA ? - - MSH2 1 Michael Woods