Genomic variant #0000420367

Individual ID 00187034
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.47637348T>A
DNA change (hg38) g.47410209T>A
Published as -
ISCN -
DB-ID MSH2_000292 See all 23 reported entries
Variant remarks -
Reference InSiGHT Variant Interpretation Committee April 2016
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 Elke Holinski-Feder
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. 3 c.482T>A r.(?) p.(Val161Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188003 DNA ? - - MSH2 1 Elke Holinski-Feder