NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg) AND Retinitis pigmentosa 43
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001376416.1
Allele description [Variation Report for NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg)]
NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg)
Condition(s)
-
sclerostin domain-containing protein 1 precursor [Rattus norvegicus]
sclerostin domain-containing protein 1 precursor [Rattus norvegicus]gi|24899635|ref|NP_714959.1|Protein
-
E3 ubiquitin-protein ligase TRIM13 [Mus musculus]
E3 ubiquitin-protein ligase TRIM13 [Mus musculus]gi|14149754|ref|NP_075722.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 30, 2024