Variant #0000433115 (NC_000003.11:g.37034841_37042544del, MLH1(NM_000249.3):c.(?_-198)_306+?del)

Individual ID 00201872
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.37034841_37042544del
DNA change (hg38) -
Published as 1-?_306+?del Deletion exons 1–3
ISCN -
DB-ID MLH1_002063 See all 3 reported entries
Variant remarks Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference PubMed: Lagerstedt-Robinson 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Kristina Lagerstedt Robinson
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/. - c.(?_-198)_306+?del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202903 DNA ? - - - 1 Kristina Lagerstedt Robinson