Variant #0000420941 (NC_000002.11:g.47554933_47699909del, MSH2(NM_000251.2):c.-75398_1759+1708del)

Individual ID 00195675
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.47554933_47699909del
DNA change (hg38) g.47327794_47472770del
Published as Deletion of Exon 1-11; g.26370866_26515842del144977
ISCN -
DB-ID MSH2_001624 See all 3 reported entries
Variant remarks -
Reference PubMed: Hampel 2006
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 Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. 1_11i c.-75398_1759+1708del r.spl p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196645 DNA ? - - MSH2 1 Michael Woods