Variant #0000433508 (NC_000003.11:g.37034604_37034607del, MLH1(NM_000249.3):c.-435_-432del)

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.37034604_37034607del
DNA change (hg38) g.36993113_36993116del
Published as -
ISCN -
DB-ID MLH1_001801 See all 2 reported entries
Variant remarks 105% and 102% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively.
Reference PubMed: Ward (2013)
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 Robyn Ward
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. _1 c.-435_-432del r.(=) p.(=)