NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) AND Usher syndrome type 2A
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001835907.2
Allele description [Variation Report for NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)]
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
Condition(s)
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UNVERIFIED: Zea mays isolate Ye4 promoter and 5' UTR-like (tin1) gene, complete ...
UNVERIFIED: Zea mays isolate Ye4 promoter and 5' UTR-like (tin1) gene, complete sequence; and C2H2-type zinc-finger transcription factor-like (tin1) gene, partial sequencegi|1784817453|gb|MN120129.1|Nucleotide
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Setaria sequence.
Setaria sequence.PopSet: 1784817545PopSet
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024