Variant #0000010084 (NC_000003.12:deletion of exons 16-19, MLH1(NM_000249.3):deletion of exons 16-19)

Individual ID 00003013
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) deletion of exons 16-19
Reference -
DB-ID MLH1_000055 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Pablo Kalfayan-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
MLH1 NM_000249.3 +/+ 16-19 deletion of exons 16-19 r.? p.? Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003329 DNA MLPA GENOS - 05-apr-2024 Known familial mutation MLH1 1 Pablo Kalfayan-Hospital Italiano