Variant #0000757545 (NC_000003.11:g.37035057G>T, MLH1(NM_000249.3):c.19G>T)

Individual ID 00356684
Chromosome 3
Allele Parent #1
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.37035057G>T
DNA change (hg38) -
Published as chr3_37035057_G_T
ISCN -
DB-ID MLH1_002065 See all 3 reported entries
Variant remarks the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
Reference PubMed: Dorling 2021, Journal: Dorling 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/53461 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner BRIDGES consortium
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 ?/. - c.19G>T r.(?) p.(Val7Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000357914 DNA SEQ-NG - 34-gene panel MLH1 1 BRIDGES consortium