NM_000277.3(PAH):c.1152C>A (p.Pro384=) AND Phenylketonuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003496340.2
Allele description [Variation Report for NM_000277.3(PAH):c.1152C>A (p.Pro384=)]
NM_000277.3(PAH):c.1152C>A (p.Pro384=)
Condition(s)
-
protein ECT2 isoform b [Homo sapiens]
protein ECT2 isoform b [Homo sapiens]gi|21735572|ref|NP_060568.3|Protein
-
myopalladin isoform a [Homo sapiens]
myopalladin isoform a [Homo sapiens]gi|153792294|ref|NP_115967.2|Protein
-
transmembrane protein 199 [Mus musculus]
transmembrane protein 199 [Mus musculus]gi|72384367|ref|NP_954669.2|Protein
-
LOC109789062 [Cajanus cajan]
LOC109789062 [Cajanus cajan]Gene ID:109789062Gene
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Last Updated: Sep 29, 2024