Variant #0000001840 (NC_000003.12:g.49419268C>G, NM_000481.3:c.688G>C (AMT))

Individual ID 00000392
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.49419268C>G
Published as -
Reference Nor Azimah Abdul Azize et al. (2014), dbSNP ,ClinVar
DB-ID AMT_000002 See all 2 reported entries
dbSNP ID rs1568206043
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 10:48:04 +08:00 (CST)
Date last edited 2021-09-05 14:16:20 +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 ?/. 6 c.688G>C - r.(?) p.(Gly230Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000406 DNA MLPA;PCR;SEQ AMT 2 Nuur Athirah Binti Mohd Daud