Variant #0000433575 (NC_000003.11:g.37038115A>G, MLH1(NM_000249.3):c.122A>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
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: Ellison 2004
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
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
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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)