NM_000188.3(HK1):c.1635C>T (p.Ile545=) AND Retinal dystrophy
- Germline classification:
- Benign (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:
- RCV003889075.1
Allele description [Variation Report for NM_000188.3(HK1):c.1635C>T (p.Ile545=)]
NM_000188.3(HK1):c.1635C>T (p.Ile545=)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
PREDICTED: Rattus norvegicus uncharacterized LOC100909866 (LOC100909866), transc...
PREDICTED: Rattus norvegicus uncharacterized LOC100909866 (LOC100909866), transcript variant X6, ncRNAgi|2678908775|ref|XR_010059155.1|Nucleotide
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Last Updated: Sep 29, 2024