Variant #0000519062 (NC_000003.11:g.37035103G>C, MLH1(NM_000249.3):c.65G>C)

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 MLH1(NM_000249.3):c.65G>C (p.G22A)
ISCN -
DB-ID MLH1_001732 See all 21 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. - c.65G>C r.(?) p.(Gly22Ala)
EPM2AIP1 NM_014805.3 ?/. - c.-535C>G r.(?) p.(=)