NM_000270.4(PNP):c.12-1G>C AND Purine-nucleoside phosphorylase deficiency
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- May 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001782663.5
Allele description [Variation Report for NM_000270.4(PNP):c.12-1G>C]
NM_000270.4(PNP):c.12-1G>C
Condition(s)
-
SLC25A20 [Bison bison bison]
SLC25A20 [Bison bison bison]Gene ID:104997230Gene
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024