Variant #0000009561 (NC_000003.12:g.37089143T>A, MLH1(NM_000249.4):c.1865T>A)

Individual ID 00002351
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.37089143T>A
Reference -
DB-ID MLH1_000079
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_000249.4 +/+ 16 c.1865T>A r.(1865u>a) (p.Leu622His) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002598 DNA SEQ-NG GENDA;COLOR Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 29-11-22 Multigenetic panel - 1 Lina Nuñez-Private Practice