Genomic variant #0000358969

Individual ID 00155689
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.37050254T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID MLH1_000225 See all 9 reported entries
Variant remarks -
Reference contributed by Dept. of Dr Vaccaro
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.03383 View details
Owner Angela Solano & F Cardoso




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     
MLH1 NM_000249.3 -/. 5i c.454-51T>C r.(?) p.(=) benign



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156554 DNA SEQ - - - 24 Angela Solano & F Cardoso