Variant #0000010019 (NC_000003.12:g.37048557A>G, MLH1(NM_000249.4):c.1937A>G)

Individual ID 00002948
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.37048557A>G
Reference -
DB-ID MLH1_000088
dbSNP ID rs35045067
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Guillermo Alberto-Instituto Fleming
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_000249.4 +/+ 17 c.1937A>G r.? p.(Tyr646Cys) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003263 DNA SEQ CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS NM_000249.4:c.1937A>G(p.Tyr646Cys) MLH1 06-feb-2024 Known familial mutation MLH1 1 Guillermo Alberto-Instituto Fleming