NM_015102.5(NPHP4):c.4140+16G>A AND Nephronophthisis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003748812.1
Allele description [Variation Report for NM_015102.5(NPHP4):c.4140+16G>A]
NM_015102.5(NPHP4):c.4140+16G>A
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
glucose-6-phosphate exchanger SLC37A2 isoform 2 [Mus musculus]
glucose-6-phosphate exchanger SLC37A2 isoform 2 [Mus musculus]gi|225543198|ref|NP_064654.3|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024