ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.981
ENST00000307000
0.981
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844358A>G , CM000674.2:g.102844358A>G | GRCh38 |
| NC_000012.11:g.103238136A>G , CM000674.1:g.103238136A>G | GRCh37 |
| NC_000012.10:g.101762266A>G | NCBI36 |
| NG_008690.1:g.78245T>C | |
| NG_008690.2:g.119053T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1043T>C MANE Select | ENSP00000448059.1:p.Leu348Pro | |
| ENST00000307000.7:c.1028T>C | ENSP00000303500.2:p.Leu343Pro | |
| ENST00000549247.6:n.802T>C | ||
| ENST00000551114.2:n.705T>C | ||
| ENST00000553106.5:c.1043T>C | ENSP00000448059.1:p.Leu348Pro | |
| ENST00000635477.1:c.147T>C | ||
| ENST00000635528.1:n.558T>C | ||
| NM_000277.1:c.1043T>C | NP_000268.1:p.Leu348Pro | |
| XM_011538422.1:c.986T>C | XP_011536724.1:p.Leu329Pro | |
| NM_000277.2:c.1043T>C | NP_000268.1:p.Leu348Pro | |
| NM_001354304.1:c.1043T>C | NP_001341233.1:p.Leu348Pro | |
| NM_000277.3:c.1043T>C MANE Select | NP_000268.1:p.Leu348Pro | |
| NM_001354304.2:c.1043T>C | NP_001341233.1:p.Leu348Pro |