Genomic variant #0000420895

Individual ID 00195629
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47629508_47649552del
DNA change (hg38) -
Published as Deletion of Exon 1-6
ISCN -
DB-ID MSH2_001604 See all 15 reported entries
Variant remarks -
Reference PubMed: Clendenning 2008; PubMed: Hampel 2008
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_6i c.-823_1076+5984del pathogenic r.spl p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196599 DNA ? - - MSH2 1 Michael Woods