Variant #0000001841 (NC_000003.12:g.49419054C>T, NM_000481.3:c.794G>A (AMT))

Individual ID 00000393
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.49419054C>T
Published as -
Reference Nor Azimah Abdul Azize et al. (2014), dbSNP, ClinVar
DB-ID AMT_000005
dbSNP ID rs757918826
Frequency 3
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-02-01 10:55:53 +08:00 (CST)
Date last edited 2021-09-05 14:18:58 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
AMT NM_000481.3 +/. 7 c.794G>A - r.(?) p.(Arg265His) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000407 DNA MLPA;PCR;SEQ AMT 1 Nuur Athirah Binti Mohd Daud