Variant #0000428057 (NC_000003.11:g.37034770C>G, MLH1(NM_000249.3):c.-269C>G)

Individual ID 00189321
Chromosome 3
Allele Parent #1
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.37034770C>G
DNA change (hg38) g.36993279C>G
Published as -269C>G
ISCN -
DB-ID MLH1_000002 See all 14 reported entries
Variant remarks -
Reference PubMed: Zavodna 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency ?
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner INSiGHT group
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.=



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000190290 DNA SEQ - - MLH1 1 INSiGHT group