Variant #0000433518 (NC_000003.11:g.(?_37034841)_(37038201_37042445)del, MLH1(NM_000249.3):c.(?_-198)_(207+1_208-1)del)

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.(?_37034841)_(37038201_37042445)del
DNA change (hg38) -
Published as Deletion of Exon 1-2
ISCN -
DB-ID MLH1_001607 See all 5 reported entries
Variant remarks Identified in DU145 cell line.
Reference PubMed: Bertholon 2006
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 ?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0?