Variant #0000002830 (NC_000006.12:g.24495102G>C, NM_001080.3:c.106G>C (ALDH5A1))

Individual ID 00000666
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.24495102G>C
Published as -
Reference Chee Geap Tay et al.(2015)
DB-ID ALDH5A1_000002
dbSNP ID rs4646832
Frequency -
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 2021-06-03 15:57:35 +08:00 (CST)
Date last edited 2023-12-12 10:02:56 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
ALDH5A1 NM_001080.3 +/. - c.106G>C - r.(?) p.(Gly36Arg) Benign​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000733 DNA PCR ALDH5A1 3 Nur Aisyah Athirah