NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr) AND Retinal dystrophy
- Germline classification:
- Uncertain significance (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:
- RCV003888799.1
Allele description [Variation Report for NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr)]
NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
Homo sapiens PHD finger protein 1 (PHF1), transcript variant 3, non-coding RNA
Homo sapiens PHD finger protein 1 (PHF1), transcript variant 3, non-coding RNAgi|1701216202|ref|NR_027692.2|Nucleotide
-
Clostridium perfringens strain:SXD-8213
Clostridium perfringens strain:SXD-8213Three Clostridium perfringens carrying or related to BecAB, derived from various sources in ChinaBioProject
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Last Updated: Sep 29, 2024