NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys) AND Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002287700.1
Allele description [Variation Report for NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)]
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
Condition(s)
-
RecName: Full=Envelope glycoprotein L; Short=gL; Flags: Precursor
RecName: Full=Envelope glycoprotein L; Short=gL; Flags: Precursorgi|2495197|sp|Q68667.1|GL_HCMV1Protein
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See more...Assertion and evidence details
Last Updated: Oct 15, 2022