NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) AND Nephronophthisis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000814429.7
Allele description [Variation Report for NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)]
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
100488357[uid] AND (alive[prop]) (1)
Gene
-
sec16b SEC16 homolog B, endoplasmic reticulum export factor [Xenopus tropicalis]
sec16b SEC16 homolog B, endoplasmic reticulum export factor [Xenopus tropicalis]Gene ID:100488357Gene
-
SRR942767 (1)
SRA
-
ptr1 [Schizosaccharomyces pombe]
ptr1 [Schizosaccharomyces pombe]Gene ID:2542537Gene
-
2542537[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024