Variant #0000021429 (NC_000012.11:g.103234271G>A, PAH(NM_000277.1):c.1222C>T)
Individual ID |
00003036 |
Chromosome |
12 |
Allele |
Parent #2 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.103234271G>A |
DNA change (hg38) |
g.102840493G>A |
Published as |
- |
ISCN |
- |
DB-ID |
PAH_000010 See all 6 reported entries |
Variant remarks |
missense variant, catalytic domain, PAH-activity 2% |
Reference |
PubMed: Sterl 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
0.00078 View details |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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