NM_000375.3(UROS):c.106T>G (p.Leu36Val) AND Cutaneous porphyria
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001106469.4
Allele description [Variation Report for NM_000375.3(UROS):c.106T>G (p.Leu36Val)]
NM_000375.3(UROS):c.106T>G (p.Leu36Val)
Condition(s)
- Name:
- Cutaneous porphyria (CEP)
- Synonyms:
- GUNTHER DISEASE; Porphyria, Erythropoietic; Congenital porphyria; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009902; MedGen: C0162530; Orphanet: 79277; OMIM: 263700
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NT5C1B 5'-nucleotidase, cytosolic IB [Homo sapiens]
NT5C1B 5'-nucleotidase, cytosolic IB [Homo sapiens]Gene ID:93034Gene
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Gene Links for GEO Profiles (Select 12825624) (1)
Gene
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Taxonomy Links for Protein (Select 1767160176) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023