Genomic variant #0000426675

Individual ID 00186913
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.37059014A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID MLH1_001902
Variant remarks Segregation Likelihood Ratio = 0.9215
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Bryony A Thompson




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     
MLH1 NM_000249.3 ?/. 10 c.808A>G r.(?) p.(Thr270Ala) VUS



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000187881 DNA SEQ-NG-I;SEQ - - MLH1, MSH2, MSH6, PMS2 1 Bryony A Thompson