ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.835
ENST00000307000
0.835
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843658T>C , CM000674.2:g.102843658T>C | GRCh38 |
| NC_000012.11:g.103237436T>C , CM000674.1:g.103237436T>C | GRCh37 |
| NC_000012.10:g.101761566T>C | NCBI36 |
| NG_008690.1:g.78945A>G | |
| NG_008690.2:g.119753A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1187A>G MANE Select | ENSP00000448059.1:p.Lys396Arg | |
| ENST00000307000.7:c.1172A>G | ENSP00000303500.2:p.Lys391Arg | |
| ENST00000549247.6:n.946A>G | ||
| ENST00000551114.2:n.849A>G | ||
| ENST00000553106.5:c.1187A>G | ENSP00000448059.1:p.Lys396Arg | |
| ENST00000635477.1:c.291A>G | ||
| ENST00000635528.1:n.702A>G | ||
| NM_000277.1:c.1187A>G | NP_000268.1:p.Lys396Arg | |
| XM_011538422.1:c.1130A>G | XP_011536724.1:p.Lys377Arg | |
| NM_000277.2:c.1187A>G | NP_000268.1:p.Lys396Arg | |
| NM_001354304.1:c.1187A>G | NP_001341233.1:p.Lys396Arg | |
| NM_000277.3:c.1187A>G MANE Select | NP_000268.1:p.Lys396Arg | |
| NM_001354304.2:c.1187A>G | NP_001341233.1:p.Lys396Arg |