NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter) AND Retinitis pigmentosa 39
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- 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:
- RCV003455387.2
Allele description [Variation Report for NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)]
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
Condition(s)
-
diacylglycerol kinase delta isoform X3 [Homo sapiens]
diacylglycerol kinase delta isoform X3 [Homo sapiens]gi|2217331585|ref|XP_047302053.1|Protein
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Last Updated: Sep 29, 2024