Variant #0000002831 (NC_000006.12:g.24503362C>T, NM_001080.3:c.538C>T (ALDH5A1))

Individual ID 00000666
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.24503362C>T
Published as -
Reference Chee Geap Tay et al.(2015)
DB-ID ALDH5A1_000003
dbSNP ID rs2760118
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 15:58:42 +08:00 (CST)
Date last edited 2021-08-01 13:01:40 +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.538C>T - r.(?) p.(His180Tyr) Benign​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000733 DNA PCR ALDH5A1 3 Nur Aisyah Athirah