NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074499.2
Allele description [Variation Report for NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)]
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
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Mus musculus tumor necrosis factor receptor superfamily, member 13c (Tnfrsf13c),...
Mus musculus tumor necrosis factor receptor superfamily, member 13c (Tnfrsf13c), mRNAgi|16306480|ref|NM_028075.1|Nucleotide
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Chain C, Dihydrodipicolinate synthase
Chain C, Dihydrodipicolinate synthasegi|241913244|pdb|3FLU|CProtein
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Last Updated: Oct 20, 2024