Variant #0000002636 (NC_000003.12:g.37048783C>T, MLH1(NM_000249.3):c.1990-121C>T)

Individual ID 00000312
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.37048783C>T
Reference -
DB-ID MLH1_000008 See all 15 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
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 -/- 17i c.1990-121C>T r.(=) p.(=) Hetero MSH2 -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000363 DNA SEQ-NG CEMIC - 11-nov-2016 - MLH1, MSH2, MSH6, MUTYH, PMS2 39 Lina Nuñez-Private Practice