Genomic variant #0000425745

Individual ID 00201703
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 (?_-68)_211+?del
ISCN -
DB-ID MSH2_000040 See all 42 reported entries
Variant remarks WT MaxEntScan score: not determined; Variant MaxEntScan score: not determined; Difference in MaxEntScan score between variant and WT (%): not determined
Reference InSiGHT, PubMed: Rossi 2017
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 Mev Dominguez Valentin
Options




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_212-1)del pathogenic r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202734 DNA ? - - - 1 Mev Dominguez Valentin