NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) AND PDE6A-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003416002.4
Allele description [Variation Report for NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)]
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
Condition(s)
- Name:
- PDE6A-related disorder
- Synonyms:
- PDE6A-related condition
- Identifiers:
-
neuronal nicotinic acetylcholine receptor beta2 subunit [Rattus norvegicus]
neuronal nicotinic acetylcholine receptor beta2 subunit [Rattus norvegicus]gi|46371171|gb|AAS90354.1|Protein
-
Rattus norvegicus clone CH230-105F16, WORKING DRAFT SEQUENCE, 4 ordered pieces
Rattus norvegicus clone CH230-105F16, WORKING DRAFT SEQUENCE, 4 ordered piecesgi|186882822|gnl|bcmhgsc|project_gy ylor|gb|AC128343.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024