Genomic variant #0000426850

Individual ID 00193657
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_37034841)_(37035155_37038109)dup
DNA change (hg38) -
Published as Duplication of Exon 1
ISCN -
DB-ID MLH1_000942 See all 2 reported entries
Variant remarks -
Reference PubMed: Zhu 2005
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 Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     
MLH1 NM_000249.3 ?/. _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? VUS



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000194626 DNA ? - - MLH1 1 Michael Woods