Variant #0000426723 (NC_000003.11:g.37034562T>C, MLH1(NM_000249.3):c.-477T>C)

Individual ID 00188542
Chromosome 3
Allele Maternal (confirmed)
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.37034562T>C
DNA change (hg38) g.36993071T>C
Published as EPM2AIP1 7A>G p.Met3Val (MLH1 -477T>C not in 5`UTR)
ISCN -
DB-ID MLH1_001802
Variant remarks EPM2AIP1 biallelic in c.7A>G p.Met3Val, MLH1 without informative SNPs
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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.-477T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189511 DNA SEQ - - MLH1, PMS2 1 Elke Holinski-Feder