Genomic variant #0000428290

Individual ID 00191031
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.[37049179_37051317delinsTG;37051667_37054327delinsCA]
DNA change (hg38) -
Published as Authors describe mutation as the deletion of Exon 6-8 with the partial retention of Intron 6
ISCN -
DB-ID MLH1_001305 See all 3 reported entries
Variant remarks -
Reference PubMed: McVety 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 ?/. 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 VUS



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000192000 DNA ? - - MLH1 1 Michael Woods