Variant #0000021428 (NC_000012.11:g.103271239C>T, PAH(NM_000277.1):c.441+1G>A)
Individual ID |
00003036 |
Chromosome |
12 |
Allele |
Parent #1 |
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.103271239C>T |
DNA change (hg38) |
g.102877461C>T |
Published as |
- |
ISCN |
- |
DB-ID |
PAH_000009 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Sterl 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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