Variant #0000008559 (NC_000003.12:g.36993638_36993639delinsTG, MLH1(NM_000249.3):c.91_92delinsTG)

Individual ID 00001506
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.36993638_36993639delinsTG
Reference -
DB-ID MLH1_000066
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
MLH1 NM_000249.3 ?/? 1 c.91_92delinsTG r.(?) p.(Ala31Cys) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001775 DNA CNV;SEQ-NG Color (deriv. Fares Taie) Hereditary Cancer Risk Test (30 genes) 20-feb-2020 Multigenetic panel - 2 Silvina Sisterna-Hospital de Comunidad