Variant #0000907424 (NC_000012.11:g.103310877A>T, PAH(NM_000277.1):c.32T>A)
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.103310877A>T |
DNA change (hg38) |
g.102917099A>T |
Published as |
- |
ISCN |
- |
DB-ID |
PAH_001632 |
Variant remarks |
- |
Reference |
PubMed: Hillert 2020, data copied from the BIOPKU database |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Not applicable |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2022-12-06 18:01:45 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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