Variant #0000432977 (NC_000003.11:g.36961079_37138741del, MLH1(NM_000249.3):c.-73960_*46597del)

Individual ID 00201489
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.36961079_37138741del
DNA change (hg38) g.36919588_37097250del
Published as -73960_*46597del
ISCN -
DB-ID MLH1_000959 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ian Frayling
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/. _1_19_ c.-73960_*46597del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202520 DNA ? - screen data 2011-01-01 - 1 Ian Frayling