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

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
Options




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