NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr) AND Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- 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:
- RCV003486175.2
Allele description [Variation Report for NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)]
NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)
Condition(s)
- Name:
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- Synonyms:
- HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY; HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY; P5N DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009946; MedGen: C1849507; Orphanet: 35120; OMIM: 266120
-
txid1116451[Organism:noexp] (1)
Identical Protein Groups
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Last Updated: Mar 16, 2024