Genomic variant #0000420672

Individual ID 00195404
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47630141C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID MSH2_001054 See all 3 reported entries
Variant remarks Functional studies indicated that activity decreased by 77%
Reference PubMed: Shin 2002
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 c.-190C>T VUS r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196374 DNA ? - - MSH2 1 Michael Woods