Variant #0000433011 (NC_000003.11:g.37034778G>A, MLH1(NM_000249.3):c.-261G>A)

Individual ID 00201598
Chromosome 3
Allele Unknown
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.37034778G>A
DNA change (hg38) g.36993287G>A
Published as -
ISCN -
DB-ID MLH1_001797
Variant remarks -
Reference PubMed: Pinto 2017
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 - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. _1 c.-261G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202629 DNA ? - - - 1 InSiGHT - John-Paul Plazzer