NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter) AND Retinitis pigmentosa 39
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003464809.2
Allele description [Variation Report for NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter)]
NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter)
Condition(s)
-
Mitovirus RNA-dependent RNA polymerase [Arabidopsis thaliana]
Mitovirus RNA-dependent RNA polymerase [Arabidopsis thaliana]gi|42570018|ref|NP_671802.2|Protein
-
Amphibalanus amphitrite isolate m54172_180301_070130 2, whole genome shotgun seq...
Amphibalanus amphitrite isolate m54172_180301_070130 2, whole genome shotgun sequencegi|2704710650|gb|CM075218.1||gnl|WG DGY|Chr2Nucleotide
-
rRNA-processing protein UTP23 homolog [Drosophila teissieri]
rRNA-processing protein UTP23 homolog [Drosophila teissieri]gi|2098130441|ref|XP_043646560.1|Protein
-
cyclin-dependent kinase 6 [Mus musculus]
cyclin-dependent kinase 6 [Mus musculus]gi|14149637|ref|NP_034003.1|Protein
-
Abdominal Injuries
Abdominal InjuriesGeneral or unspecified injuries involving organs in the abdominal cavity.<br/>MeSH
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024