Variant #0000005720 (NC_000003.12:g.37025629_37025630insTA, MLH1(NM_000249.3):c.1039-8_1039-7insTA)

Individual ID 00000798
Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.37025629_37025630insTA
Reference -
DB-ID MLH1_000039
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
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     

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DNA change (cDNA)     

RNA change     

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Review status     
MLH1 NM_000249.3 -?/-? 11i c.1039-8_1039-7insTA r.(=) p.(=) Hetero no -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000926 DNA SEQ-NG Héritas Panel Héritas (BRCA1,BRCA2,PTEN,TP53,ATM,CDH1,CHEK2,NBN,NF1,STK11,BRIP1,RAD51C,RAD51D,MLH1,MSH2,MSH6,PMS2,EPCAM,APC,MUTYH,BMPR1A,SMAD4,CDKN2A,CDK4) 29-jun-2018 Multigenetic panel - 7 Laura Vargas Roig-IMBECU