NM_000270.4(PNP):c.49C>T (p.Leu17Phe) AND Purine-nucleoside phosphorylase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 5, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001238261.8
Allele description [Variation Report for NM_000270.4(PNP):c.49C>T (p.Leu17Phe)]
NM_000270.4(PNP):c.49C>T (p.Leu17Phe)
Condition(s)
-
S41 family peptidase [Sinirhodobacter sp. HNIBRBA609]
S41 family peptidase [Sinirhodobacter sp. HNIBRBA609]gi|2421967004|gnl|PRJNA914076|O5O51 5|gb|WBL33125.1|Protein
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Last Updated: Sep 29, 2024