Variant #0000355751 (NC_000003.11:g.37038067_37038071del, MLH1(NM_000249.3):c.117-43_117-39del)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method InSiGHT
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.37038067_37038071del
DNA change (hg38) g.36996576_36996580del
Published as -
ISCN -
DB-ID MLH1_001087 See all 3 reported entries
Variant remarks Insight class: 2
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 c.117-43_117-39del r.= p.=