Variant #0000426890 (NC_000003.11:g.37035040T>G, MLH1(NM_000249.3):c.2T>G)

Individual ID 00191217
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.37035040T>G
DNA change (hg38) g.36993549T>G
Published as p.Met1Arg
ISCN -
DB-ID MLH1_000032 See all 8 reported entries
Variant remarks -
Reference PubMed: Auclair 2006
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 Michael Woods
Database submission license No license selected
Created by Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. 1 c.2T>G r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000192186 DNA ? - - MLH1 1 Michael Woods