Variant #0000433116 (NC_000003.11:g.37034841_37042544del, MLH1(NM_000249.3):c.(?_-198)_306+?del)

Individual ID 00201873
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
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     
0000202904 DNA ? - - - 1 Kristina Lagerstedt Robinson