NM_015662.3(IFT172):c.4398T>G (p.Tyr1466Ter) AND Retinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003890656.1
Allele description [Variation Report for NM_015662.3(IFT172):c.4398T>G (p.Tyr1466Ter)]
NM_015662.3(IFT172):c.4398T>G (p.Tyr1466Ter)
Condition(s)
- Name:
- Retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
BMP8B bone morphogenetic protein 8b [Homo sapiens]
BMP8B bone morphogenetic protein 8b [Homo sapiens]Gene ID:656Gene
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See more...Assertion and evidence details
Last Updated: Mar 16, 2024