Variant #0000411980 (NC_000006.11:g.24495560G>A, ALDH5A1(NM_001080.3):c.336G>A)
Individual ID |
00185205 |
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 |
2016-01-05 14:32:36 +01:00 (CET) |
Date last edited |
2018-11-01 10:10:28 +01:00 (CET) |

Variant on transcripts
Screenings
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