Variant #0000355579 (NC_000003.11:g.37034770C>G, MLH1(NM_000249.3):c.-269C>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method InSiGHT
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.37034770C>G
DNA change (hg38) g.36993279C>G
Published as -
ISCN -
DB-ID MLH1_000002 See all 14 reported entries
Variant remarks Insight class: 2
Reference InSiGHT
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 -?/-? _1 c.-269C>G r.(=) p.(=)