NM_206933.4(USH2A):c.2195G>T (p.Gly732Val) AND Usher syndrome type 2A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003992391.2
Allele description [Variation Report for NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)]
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)
Condition(s)
-
uncharacterized protein Dmel_CG33012 [Drosophila melanogaster]
uncharacterized protein Dmel_CG33012 [Drosophila melanogaster]gi|442623441|ref|NP_788335.2|Protein
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024