Variant #0000789663 (NC_000003.11:g.(?_37034841)_(37092337_?)del, MLH1(NM_000249.3):c._-198_*193{0} )

Individual ID 00376153
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_37034841)_(37092337_?)del
DNA change (hg38) g.(?_36993350)_(37050846_?)del
Published as -
ISCN -
DB-ID MLH1_001571 See all 15 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 Kathleen Claes
Database submission license No license selected
Created by Kathleen Claes
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/. _1_19_ c._-198_*193{0}  r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377349 DNA SEQ-NG blood - - 1 Kathleen Claes