Variant #0000433015 (NC_000003.11:g.(?_37034841)_(37035155_37038109)del, MLH1(NM_000249.3):c.(?_-198)_(116+1_117-1)del)

Individual ID 00201610
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)_(37035155_37038109)del
DNA change (hg38) -
Published as (?_-198)_116+?del
ISCN -
DB-ID MLH1_000941 See all 5 reported entries
Variant remarks WT MaxEntScan score: not determined; Variant MaxEntScan score: not determined; Difference in MaxEntScan score between variant and WT (%): not determined
Reference InSiGHT, PubMed: Rossi 2017
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 Mev Dominguez Valentin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202641 DNA ? - - - 1 Mev Dominguez Valentin