NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter) AND Retinitis pigmentosa 39
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003454076.1
Allele description [Variation Report for NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)]
NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)
Condition(s)
-
Kiaa1217 [Phodopus roborovskii]
Kiaa1217 [Phodopus roborovskii]Gene ID:127237410Gene
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Last Updated: Sep 29, 2024