Variant #0000002261 (NC_000003.12:g.36993455G>A, NM_000249.3:c.-93G>A (MLH1))

Individual ID 00000483
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.36993455G>A
Published as -
Reference Zahary Mohd Nizam et al.(2013)
DB-ID MLH1_000002 See all 5 reported entries
dbSNP ID rs1800734
Frequency 26/52
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-07 11:04:48 +08:00 (CST)
Date last edited 2021-08-01 13:15:02 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
MLH1 NM_000249.3 ?/. - c.-93G>A - r.(=) p.(=) - Benign



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000529 DNA PCR MLH1 1 Nur Aisyah Athirah