NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) AND Nephronophthisis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001079077.8
Allele description [Variation Report for NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)]
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
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Last Updated: Oct 13, 2024