Variant #0000426866 (NC_000003.11:g.(?_37034841)_(37042545_37045891)del, MLH1(NM_000249.3):c.(?_-198)_(306+1_307-1)del)

Individual ID 00194628
Chromosome 3
Allele Maternal (confirmed)
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)_(37042545_37045891)del
DNA change (hg38) -
Published as Deletion of Exon 1-3
ISCN -
DB-ID MLH1_000946 See all 6 reported entries
Variant remarks -
Reference PubMed: Spaepen 2006 Genuardi (unpublished)
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 Maurizio Genuardi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000195597 DNA MLPA - - MLH1 1 Maurizio Genuardi