Variant #0000420732 (NC_000002.11:g.47629375_47651274del, MSH2(NM_000251.2):c.-956_1077-5607del)

Individual ID 00195461
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.47629375_47651274del
DNA change (hg38) g.47402236_47424135del
Published as del ex1_6, 21899 bp
ISCN -
DB-ID MSH2_001603 See all 2 reported entries
Variant remarks -
Reference PubMed: van der Klift 2005; PubMed: Wagner 2003
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 Juul Wijnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. 1_6i c.-956_1077-5607del r.spl p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196431 DNA Southern;SEQ - - MSH2 1 Juul Wijnen