Variant #0000356562 (NC_000003.11:g.37035082dup, MLH1(NM_000249.3):c.44dup)

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.37035082dup
DNA change (hg38) g.36993591dup
Published as -
ISCN -
DB-ID MLH1_000036 See all 4 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 +/+ 1 c.44dup r.(?) p.(Val16Glyfs*15)