Variant #0000426948 (NC_000003.11:g.37035103G>C, MLH1(NM_000249.3):c.65G>C)

Individual ID 00189866
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.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: Barnetson 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
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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     
0000190835 DNA SEQ - - MLH1 1 Rolf Sijmons