Variant #0000427170 (NC_000003.11:g.37038115A>G, MLH1(NM_000249.3):c.122A>G)

Individual ID 00191311
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.37038115A>G
DNA change (hg38) g.36996624A>G
Published as D41G
ISCN -
DB-ID MLH1_000067 See all 12 reported entries
Variant remarks {GR:236}
Reference PubMed: Lucci-Cordisco 2006
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Rolf Sijmons
Database submission license No license selected
Created by Rolf Sijmons
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +/. 2 c.122A>G r.(?) p.(Asp41Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000192280 DNA SEQ - - MLH1 1 Rolf Sijmons