NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) AND WFS1-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004528845.1
Allele description [Variation Report for NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)]
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)
Condition(s)
- Name:
- WFS1-related disorder
- Identifiers:
-
Homo sapiens multiple PDZ domain crumbs cell polarity complex component (MPDZ), ...
Homo sapiens multiple PDZ domain crumbs cell polarity complex component (MPDZ), transcript variant 1, mRNAgi|1769843714|ref|NM_003829.5|Nucleotide
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Last Updated: Sep 16, 2024