ClinGen Evidence Repository:
Classification
Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.623
ENST00000551337
0.623
ENST00000546844
0.623
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000953 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917130T>C , CM000674.2:g.102917130T>C | GRCh38 |
| NC_000012.11:g.103310908T>C , CM000674.1:g.103310908T>C | GRCh37 |
| NC_000012.10:g.101835038T>C | NCBI36 |
| NG_008690.1:g.5473A>G | |
| NG_008690.2:g.46281A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1A>G MANE Select | ENSP00000448059.1:p.Met1Val | |
| ENST00000307000.7:c.-147A>G | ENSP00000303500.2:n.-147A>G | |
| ENST00000546844.1:c.1A>G | ENSP00000446658.1:p.Met1Val | |
| ENST00000547319.1:n.312A>G | ||
| ENST00000549111.5:n.97A>G | ||
| ENST00000551337.5:c.1A>G | ENSP00000447620.1:p.Met1Val | |
| ENST00000551988.5:n.90A>G | ||
| ENST00000553106.5:c.1A>G | ENSP00000448059.1:p.Met1Val | |
| ENST00000635500.1:n.29-4232A>G | ||
| NM_000277.1:c.1A>G | NP_000268.1:p.Met1Val | |
| XM_011538422.1:c.1A>G | XP_011536724.1:p.Met1Val | |
| NM_000277.2:c.1A>G | NP_000268.1:p.Met1Val | |
| NM_001354304.1:c.1A>G | NP_001341233.1:p.Met1Val | |
| XM_017019370.2:c.1A>G | XP_016874859.1:p.Met1Val | |
| NM_000277.3:c.1A>G MANE Select | NP_000268.1:p.Met1Val | |
| NM_001354304.2:c.1A>G | NP_001341233.1:p.Met1Val |