Variant #0000001835 (NC_000003.12:g.49419292G>A, NM_000481.3:c.664C>T (AMT))

Individual ID 00000390
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.49419292G>A
Published as -
Reference Nor Azimah Abdul Azize et al. (2014), dbSNP, ClinVar
DB-ID AMT_000001 See all 2 reported entries
dbSNP ID rs781466698
Frequency 1/4
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 10:25:53 +08:00 (CST)
Date last edited 2021-09-05 13:30:16 +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     
AMT NM_000481.3 +/. 6 c.664C>T - r.(?) p.(Arg222Cys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000404 DNA MLPA;PCR;SEQ AMT 2 Nuur Athirah Binti Mohd Daud