Variant #0000420443 (NC_000002.11:g.(?_47630206)_(47630542_47635539)del, MSH2(NM_000251.2):c.(?_-125)_(211+1_212-1)del)

Individual ID 00188680
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_47630206)_(47630542_47635539)del
DNA change (hg38) -
Published as 1-?_211+?del
ISCN -
DB-ID MSH2_000040 See all 42 reported entries
Variant remarks Submitted by ICCon South Australia
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner ICCon
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189649 DNA SEQ - - MSH2 1 ICCon