NM_000485.3(APRT):c.264G>T (p.Lys88Asn) AND Adenine phosphoribosyltransferase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001269442.1
Allele description [Variation Report for NM_000485.3(APRT):c.264G>T (p.Lys88Asn)]
NM_000485.3(APRT):c.264G>T (p.Lys88Asn)
Condition(s)
-
Homo sapiens coiled-coil domain containing 32 (CCDC32), transcript variant 2, mR...
Homo sapiens coiled-coil domain containing 32 (CCDC32), transcript variant 2, mRNAgi|1838745047|ref|NM_052849.5|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 29, 2022