NM_000277.3(PAH):c.1127A>G (p.Asn376Ser) AND Phenylketonuria
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002297173.4
Allele description [Variation Report for NM_000277.3(PAH):c.1127A>G (p.Asn376Ser)]
NM_000277.3(PAH):c.1127A>G (p.Asn376Ser)
Condition(s)
-
RecName: Full=Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransfera...
RecName: Full=Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 8 homolog; AltName: Full=Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase; AltName: Full=Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferasegi|143811361|sp|Q9BVK2.2|ALG8_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024