Genomic variant #0000420789

Individual ID 00195526
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47595033_47662777del
DNA change (hg38) -
Published as Deletion of Exon 1-7
ISCN -
DB-ID MSH2_000938 See all 4 reported entries
Variant remarks -
Reference PubMed: Staaf 2008; PubMed: Charbonnier 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 Michael Woods




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 +/. 1_7i c.-35298_1276+5697del pathogenic r.spl p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196496 DNA ? - - MSH2 1 Michael Woods