NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter) AND Usher syndrome type 1D
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002307868.2
Allele description [Variation Report for NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)]
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
Condition(s)
-
dna-directed rna polymerase ii subunit rpb3-a-like [Plasmopara halstedii]
dna-directed rna polymerase ii subunit rpb3-a-like [Plasmopara halstedii]gi|953487468|emb|CEG48296.1||gnl|WG D|CEG48296Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2022