Variant #0000426732 (NC_000003.11:g.37034770C>G, MLH1(NM_000249.3):c.-269C>G)

Individual ID 00188551
Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.37034770C>G
DNA change (hg38) g.36993279C>G
Published as EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
ISCN -
DB-ID MLH1_000002 See all 14 reported entries
Variant remarks MLH1 in heterozygous SNPs c.-93G>A and c.655A>G biallelic, EPM2AIP1 biallelic in c.-202G>C
Reference -
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 Elke Holinski-Feder
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     
0000189520 DNA MLPA;SEQ - - MLH1, PMS2 1 Elke Holinski-Feder