Genomic variant #0000420708

Individual ID 00195438
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_47630206)_(47630542_47635539)del
DNA change (hg38) -
Published as del ex1, >19kb
ISCN -
DB-ID MSH2_000040 See all 42 reported entries
Variant remarks -
Reference PubMed: Wijnen 1998, PubMed: van der Klift 2005, PubMed: Wagner 2002
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 Carli Tops




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196408 DNA Southern - - MSH2 1 Carli Tops