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
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
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