Variant #0000426749 (NC_000003.11:g.36998760_?, MLH1(NM_000249.3):c.?)

Individual ID 00188596
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.36998760_?
DNA change (hg38) -
Published as Balanced translocation
ISCN -
DB-ID MLH1_000000
Variant remarks Balanced translocation. Found in 1 family
Reference PubMed: Haraldsdottir 2018
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 Sigurdis Haraldsdottir
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. ? c.? r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189565 DNA SEQ - WGS, confirmed by karyotyping and FISH; screen date 2015-01-01 - 1 Sigurdis Haraldsdottir