ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.846
ENST00000307000
0.846
ENST00000551337
0.846
ENST00000546844
0.846
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010061 (SAS)
Exomes Max Group AF
0.00009791 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894794A>G , CM000674.2:g.102894794A>G | GRCh38 |
| NC_000012.11:g.103288572A>G , CM000674.1:g.103288572A>G | GRCh37 |
| NC_000012.10:g.101812702A>G | NCBI36 |
| NG_008690.1:g.27809T>C | |
| NG_008690.2:g.68617T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.293T>C MANE Select | ENSP00000448059.1:p.Leu98Ser | |
| ENST00000307000.7:c.278T>C | ENSP00000303500.2:p.Leu93Ser | |
| ENST00000546844.1:c.293T>C | ENSP00000446658.1:p.Leu98Ser | |
| ENST00000548928.1:n.215T>C | ||
| ENST00000549111.5:n.389T>C | ||
| ENST00000550978.6:c.277T>C | ||
| ENST00000551337.5:c.293T>C | ENSP00000447620.1:p.Leu98Ser | |
| ENST00000551988.5:n.382T>C | ||
| ENST00000553106.5:c.293T>C | ENSP00000448059.1:p.Leu98Ser | |
| NM_000277.1:c.293T>C | NP_000268.1:p.Leu98Ser | |
| XM_011538422.1:c.293T>C | XP_011536724.1:p.Leu98Ser | |
| NM_000277.2:c.293T>C | NP_000268.1:p.Leu98Ser | |
| NM_001354304.1:c.293T>C | NP_001341233.1:p.Leu98Ser | |
| XM_017019370.2:c.293T>C | XP_016874859.1:p.Leu98Ser | |
| NM_000277.3:c.293T>C MANE Select | NP_000268.1:p.Leu98Ser | |
| NM_001354304.2:c.293T>C | NP_001341233.1:p.Leu98Ser |