NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter) AND Usher syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002236182.1
Allele description [Variation Report for NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)]
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
Condition(s)
-
Hadrops sp. NLG-2014 isolate COL948 28S ribosomal RNA gene, partial sequence
Hadrops sp. NLG-2014 isolate COL948 28S ribosomal RNA gene, partial sequencegi|695116740|gb|KF802164.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024