Variant #0000426870 (NC_000003.11:g.(?_37034841)_(37059091_37061800)del, MLH1(NM_000249.3):c.(?_-198)_(884+1_885-1)del)

Individual ID 00189053
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)_(37059091_37061800)del
DNA change (hg38) -
Published as Deletion E1-10
ISCN -
DB-ID MLH1_000949 See all 11 reported entries
Variant remarks -
Reference -
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 Peter Propping, Prof. Dr. med.
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000190022 DNA PCR;SEQ - - MLH1, MSH2 5 Peter Propping, Prof. Dr. med.