Variant #0000422171 (NC_000002.11:g.47630146C>A, MSH2(NM_000251.2):c.-185C>A)

Individual ID 00196890
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.47630146C>A
DNA change (hg38) g.47403007C>A
Published as -
ISCN -
DB-ID MSH2_001590
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Tatiane Pastor
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 ?/. 1 c.-185C>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000197860 DNA PCR - - MSH2 1 Tatiane Pastor