Variant #0000411970 (NC_000006.11:g.24495502G>T, ALDH5A1(NM_001080.3):c.278G>T)

Individual ID 00185198
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.24495502G>T
DNA change (hg38) g.24495274G>T
Published as -
ISCN -
DB-ID ALDH5A1_006015 See all 45 reported entries
Variant remarks -
Reference PubMed: Akaboshi 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALDH5A1 NM_001080.3 +/+ 1 c.278G>T r.(?) p.(Cys93Phe)
ALDH5A1 NM_170740.1 ./. - c.278G>T r.(?) p.(Cys93Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186165 DNA SEQ - - ALDH5A1 2 Gajja Salomons