NM_000261.2(MYOC):c.518G>C (p.Ser173Thr) AND Glaucoma of childhood
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002306261.1
Allele description [Variation Report for NM_000261.2(MYOC):c.518G>C (p.Ser173Thr)]
NM_000261.2(MYOC):c.518G>C (p.Ser173Thr)
Condition(s)
- Name:
- Glaucoma of childhood
- Synonyms:
- Childhood glaucoma; Infantile glaucoma; Pediatric glaucoma; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0020367; MedGen: C2981140; Human Phenotype Ontology: HP:0001087
-
protein ECT2 isoform b [Homo sapiens]
protein ECT2 isoform b [Homo sapiens]gi|21735572|ref|NP_060568.3|Protein
-
myopalladin isoform a [Homo sapiens]
myopalladin isoform a [Homo sapiens]gi|153792294|ref|NP_115967.2|Protein
-
transmembrane protein 199 [Mus musculus]
transmembrane protein 199 [Mus musculus]gi|72384367|ref|NP_954669.2|Protein
-
LOC109789062 [Cajanus cajan]
LOC109789062 [Cajanus cajan]Gene ID:109789062Gene
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See more...Assertion and evidence details
Last Updated: Nov 19, 2022