NM_014425.5(INVS):c.658G>A (p.Glu220Lys) AND Nephronophthisis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001888708.5
Allele description [Variation Report for NM_014425.5(INVS):c.658G>A (p.Glu220Lys)]
NM_014425.5(INVS):c.658G>A (p.Glu220Lys)
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
"Bionano Laboratories"[submitter] AND "MICU1"[gene] (1)
ClinVar
-
Invertebrate sample from Dreissena polymorpha
Invertebrate sample from Dreissena polymorphabiosample
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024