Genomic variant #0000420724

Individual ID 00195453
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47618487_47650860delins(155)
DNA change (hg38) -
Published as del ex1_6, 32372 bp
ISCN -
DB-ID MSH2_001602 See all 6 reported entries
Variant remarks -
Reference PubMed: van der Klift 2005
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 Juul Wijnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 +/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196423 DNA Southern;SEQ - - MSH2 1 Juul Wijnen