Variant #0000001147 (NC_000001.11:g.99921542G>A, NM_000642.2:c.4490G>A (AGL))

Individual ID 00000229
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.99921542G>A
Published as -
Reference Ili Syazwana Abdullah et al. (2019)
DB-ID AGL_000003
dbSNP ID rs1555397212
Frequency 2/14
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 2020-12-07 16:18:01 +08:00 (CST)
Date last edited 2021-09-08 11:26:16 +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     
AGL NM_000642.2 +/. 35 c.4490G>A - r.(?) p.(Trp1497*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000244 DNA PCRdig;TaqMan AGL 5 Nuur Athirah Binti Mohd Daud