NM_006204.4(PDE6C):c.205G>A (p.Val69Met) AND PDE6C-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 6, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004751326.1
Allele description [Variation Report for NM_006204.4(PDE6C):c.205G>A (p.Val69Met)]
NM_006204.4(PDE6C):c.205G>A (p.Val69Met)
Condition(s)
- Name:
- PDE6C-related disorder
- Synonyms:
- PDE6C-related condition
- Identifiers:
-
signal recognition particle 54C isoform X1 [Mus musculus]
signal recognition particle 54C isoform X1 [Mus musculus]gi|755542055|ref|XP_011242273.1|Protein
-
signal recognition particle 54C isoform 2 [Mus musculus]
signal recognition particle 54C isoform 2 [Mus musculus]gi|1782692204|ref|NP_001363967.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024