Genomic variant #0000358869

Individual ID 00155689
Chromosome 3
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.37092179_37092181del
DNA change (hg38) -
Published as *35_*37delCTT
ISCN -
DB-ID MLH1_000813 See all 27 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) Variant not found in online data sets
Owner Angela Solano & F Cardoso




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     
MLH1 NM_000249.3 -/. 19 c.*35_*37del r.(?) p.(=) benign



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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