Genomic variant #0000426735

Individual ID 00188556
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.37034770C>G
DNA change (hg38) -
Published as EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR)
ISCN -
DB-ID MLH1_000002 See all 14 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 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     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189525 DNA SEQ - - MLH1, PMS2 2 Elke Holinski-Feder