NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) AND Usher syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003155271.1
Allele description [Variation Report for NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)]
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
Condition(s)
-
carinoembryonic antigen [Homo sapiens]
carinoembryonic antigen [Homo sapiens]gi|1877203|emb|CAA44076.1|Protein
-
js- lineeggc.vipGBG (73)
BioProject
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024