Variant #0000412182 (NC_000006.11:g.24495560G>A, ALDH5A1(NM_001080.3):c.336G>A)

Individual ID 00185360
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.24495560G>A
DNA change (hg38) g.24495332G>A
Published as 366delG (W112fsX112)
ISCN -
DB-ID ALDH5A1_006017 See all 5 reported entries
Variant remarks -
Reference PubMed: Yamakawa 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Date created 2018-09-14 14:20:53 +02:00 (CEST)
Date last edited 2018-11-01 10:10:29 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALDH5A1 NM_001080.3 +/+ 1 c.336G>A r.(?) p.(Trp112*)
ALDH5A1 NM_170740.1 ./. - c.336G>A r.(?) p.(Trp112*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186327 DNA SEQ - - ALDH5A1 2 Gajja Salomons