ClinGen Classification:
Classification
Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
ClinVar Variation:
COSMIC:
COSM5839934
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00101838 (MID)
Genomes Max Group AF
0.0005986 (NFE)
Exomes Max Group AF
0.00107001 (MID)
Revel Score:
ENST00000553106 (MANE Select)
0.922
ENST00000307000
0.922
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840507G>A , CM000674.2:g.102840507G>A | GRCh38 |
| NC_000012.11:g.103234285G>A , CM000674.1:g.103234285G>A | GRCh37 |
| NC_000012.10:g.101758415G>A | NCBI36 |
| NG_008690.1:g.82096C>T | |
| NG_008690.2:g.122904C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1208C>T MANE Select | ENSP00000448059.1:p.Ala403Val | |
| ENST00000307000.7:c.1193C>T | ENSP00000303500.2:p.Ala398Val | |
| ENST00000551114.2:n.870C>T | ||
| ENST00000553106.5:c.1208C>T | ENSP00000448059.1:p.Ala403Val | |
| ENST00000635477.1:c.312C>T | ||
| ENST00000635528.1:n.723C>T | ||
| NM_000277.1:c.1208C>T | NP_000268.1:p.Ala403Val | |
| XM_011538422.1:c.1151C>T | XP_011536724.1:p.Ala384Val | |
| NM_000277.2:c.1208C>T | NP_000268.1:p.Ala403Val | |
| NM_001354304.1:c.1208C>T | NP_001341233.1:p.Ala403Val | |
| NM_000277.3:c.1208C>T MANE Select | NP_000268.1:p.Ala403Val | |
| NM_001354304.2:c.1208C>T | NP_001341233.1:p.Ala403Val |