Genomic variant #0000420710

Individual ID 00195440
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 at least 15 kb upstream exon 1_ exon 1
ISCN -
DB-ID MSH2_000040 See all 42 reported entries
Variant remarks -
Reference -
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     
0000196410 DNA Southern;MLPA - - MSH2 1 Carli Tops