Variant #0000411771 (NC_000006.11:g.24502835G>A, ALDH5A1(NM_001080.3):c.438+1G>A)
Individual ID |
00185060 |
Chromosome |
6 |
Allele |
Parent #2 |
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.24502835G>A |
DNA change (hg38) |
g.24502607G>A |
Published as |
IVS2+1G>A |
ISCN |
- |
DB-ID |
ALDH5A1_006023 See all 5 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) |
Retrieve |
Owner |
Gajja Salomons |
Database submission license |
No license selected |
Created by |
Gajja Salomons |
Date created |
2016-01-05 14:32:35 +01:00 (CET) |
Date last edited |
2021-09-19 15:05:54 +02:00 (CEST) |

Variant on transcripts
Screenings
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