NM_000261.2(MYOC):c.624C>G (p.Asp208Glu) AND Glaucoma 1, open angle, E
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001838654.5
Allele description [Variation Report for NM_000261.2(MYOC):c.624C>G (p.Asp208Glu)]
NM_000261.2(MYOC):c.624C>G (p.Asp208Glu)
Condition(s)
- Name:
- Glaucoma 1, open angle, E
- Identifiers:
- MedGen: C1842026
-
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: Dec 24, 2023