NM_000322.5(PRPH2):c.397G>A (p.Gly133Arg) AND PRPH2-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001905280.4
Allele description [Variation Report for NM_000322.5(PRPH2):c.397G>A (p.Gly133Arg)]
NM_000322.5(PRPH2):c.397G>A (p.Gly133Arg)
Condition(s)
- Name:
- PRPH2-related disorder
- Synonyms:
- PRPH2-Related Disorders; PRPH2-related condition
- Identifiers:
- MedGen: CN239395
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Homo sapiens solute carrier family 30 member 8 (SLC30A8), transcript variant 1, ...
Homo sapiens solute carrier family 30 member 8 (SLC30A8), transcript variant 1, mRNAgi|64762488|ref|NM_173851.2|Nucleotide
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Leviprora inops
Leviprora inopsLeviprora inops (Longhead Flathead), fLevIno1, sequence dataBioProject
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Last Updated: Sep 29, 2024