NM_024844.5(NUP85):c.1430C>T (p.Ala477Val) AND Nephrotic syndrome, type 17
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 10, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000721154.2
Allele description [Variation Report for NM_024844.5(NUP85):c.1430C>T (p.Ala477Val)]
NM_024844.5(NUP85):c.1430C>T (p.Ala477Val)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022
SCV000899130