NM_000261.2(MYOC):c.864C>T (p.Ile288=) AND Glaucoma
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096858.6
Allele description [Variation Report for NM_000261.2(MYOC):c.864C>T (p.Ile288=)]
NM_000261.2(MYOC):c.864C>T (p.Ile288=)
Condition(s)
- Name:
- Glaucoma
- Identifiers:
- MONDO: MONDO:0005041; MedGen: C0017601; Human Phenotype Ontology: HP:0000501
-
PREDICTED: Homo sapiens phosphodiesterase 6B (PDE6B), transcript variant X5, mRN...
PREDICTED: Homo sapiens phosphodiesterase 6B (PDE6B), transcript variant X5, mRNAgi|2217350899|ref|XM_047415775.1|Nucleotide
-
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform X5 [Homo s...
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform X5 [Homo sapiens]gi|2217350902|ref|XP_047271732.1|Protein
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Last Updated: Oct 13, 2024