Variant #0000426835 (NC_000003.11:g.37034658_37038806del, MLH1(NM_000249.3):c.-381_207+606del)

Individual ID 00193664
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.37034658_37038806del
DNA change (hg38) g.36993167_36997315del
Published as Deletion of Exon 1-2
ISCN -
DB-ID MLH1_000944 See all 3 reported entries
Variant remarks -
Reference PubMed: van der Klift 2005,PubMed: Chong 2009
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 Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. _1_2i c.-381_207+606del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000194633 DNA ? - - MLH1 1 Michael Woods