ClinGen Classification:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866612C>T , CM000674.2:g.102866612C>T | GRCh38 |
| NC_000012.11:g.103260390C>T , CM000674.1:g.103260390C>T | GRCh37 |
| NC_000012.10:g.101784520C>T | NCBI36 |
| NG_008690.1:g.55991G>A | |
| NG_008690.2:g.96799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.493G>A MANE Select | ENSP00000448059.1:p.Ala165Thr | |
| ENST00000307000.7:c.478G>A | ENSP00000303500.2:p.Ala160Thr | |
| ENST00000549111.5:n.589G>A | ||
| ENST00000551988.5:n.530+10850G>A | ||
| ENST00000553106.5:c.493G>A | ENSP00000448059.1:p.Ala165Thr | |
| NM_000277.1:c.493G>A | NP_000268.1:p.Ala165Thr | |
| XM_011538422.1:c.493G>A | XP_011536724.1:p.Ala165Thr | |
| NM_000277.2:c.493G>A | NP_000268.1:p.Ala165Thr | |
| NM_001354304.1:c.493G>A | NP_001341233.1:p.Ala165Thr | |
| XM_017019370.2:c.493G>A | XP_016874859.1:p.Ala165Thr | |
| NM_000277.3:c.493G>A MANE Select | NP_000268.1:p.Ala165Thr | |
| NM_001354304.2:c.493G>A | NP_001341233.1:p.Ala165Thr |