Variant #0000426954 (NC_000003.11:g.37035103G>C, MLH1(NM_000249.3):c.65G>C)

Individual ID 00191242
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.37035103G>C
DNA change (hg38) g.36993612G>C
Published as G22A
ISCN -
DB-ID MLH1_001732 See all 21 reported entries
Variant remarks {GR:330}
Reference PubMed: Chao 2008
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
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 +/. 1 c.65G>C r.(?) p.(Gly22Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000192211 DNA SEQ - - MLH1 1 Rolf Sijmons