Variant #0000426684 (NC_000003.11:g.37034604_37034607del, MLH1(NM_000249.3):c.-435_-432del)

Individual ID 00188415
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.37034604_37034607del
DNA change (hg38) g.36993113_36993116del
Published as -
ISCN -
DB-ID MLH1_001801 See all 2 reported entries
Variant remarks Testing stopped when variant detected
Reference PubMed: Ward (2013)
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 Robyn Ward
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. _1 c.-435_-432del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189384 DNA SEQ - screen data 2012-01-01 MLH1, MSH2, MSH6, MUTYH, PMS2 1 Robyn Ward