Variant #0000355752 (NC_000003.11:g.37037419_37043555del, MLH1(NM_000249.3):c.117-691_306+1011del)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method InSiGHT
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.37037419_37043555del
DNA change (hg38) g.36995928_37002064del
Published as -
ISCN -
DB-ID MLH1_000065 See all 5 reported entries
Variant remarks Insight class: 5
Reference InSiGHT
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/+ 1i_3i c.117-691_306+1011del r.117_306del p.Cys39Trpfs*6