Variant #0000434169 (NC_000003.11:g.37067343T>R, MLH1(NM_000249.3):c.1254T>R)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.37067343T>R
DNA change (hg38) g.37025852T>R
Published as -
ISCN -
DB-ID MLH1_001093
Variant remarks Results from site-directed mutagenesis
Reference PubMed: Chen 2004
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. 12 c.1254T>R r.(?) p.(Asp418Glu)