Variant #0000048384 (NC_000012.11:g.103237499T>C, PAH(NM_000277.1):c.1124A>G)
Individual ID |
00025488 |
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.103237499T>C |
DNA change (hg38) |
g.102843721T>C |
Published as |
- |
ISCN |
- |
DB-ID |
PAH_000011 |
Variant remarks |
- |
Reference |
PubMed: Ajami 2013, Journal: Ajami 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Naser Ajami |

Variant on transcripts
Screenings
|
|