Variant #0000426905 (NC_000003.11:g.37035056_37035072del, MLH1(NM_000249.3):c.18_34del)

Individual ID 00189324
Chromosome 3
Allele Parent #1
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.37035056_37035072del
DNA change (hg38) g.36993565_36993581del
Published as 17-bp del at ?
ISCN -
DB-ID MLH1_000029 See all 11 reported entries
Variant remarks -
Reference PubMed: Wijnen 1997
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 INSiGHT group
Database submission license No license selected
Created by INSiGHT group
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/. 1 c.18_34del r.(?) p.(Val7Argfs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000190293 DNA SEQ - - MLH1 1 INSiGHT group