NM_000277.3(PAH):c.994G>A (p.Gly332Arg) AND Phenylketonuria
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003316901.2
Allele description [Variation Report for NM_000277.3(PAH):c.994G>A (p.Gly332Arg)]
NM_000277.3(PAH):c.994G>A (p.Gly332Arg)
Condition(s)
-
New Journal of Chemistry[Journal] (1)
NLM Catalog
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Last Updated: Dec 30, 2023