NM_201253.3(CRB1):c.1227T>G (p.Gly409=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001500196.6
Allele description [Variation Report for NM_201253.3(CRB1):c.1227T>G (p.Gly409=)]
NM_201253.3(CRB1):c.1227T>G (p.Gly409=)
Condition(s)
- Name:
- Retinitis pigmentosa 12 (RP12)
- Synonyms:
- RP 12; RP WITH OR WITHOUT PPRPE; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010818; MedGen: C1838647; Orphanet: 791; OMIM: 600105
-
PRJNA812065 (23)
SRA
-
Hunter-McAlpine craniosynostosis
Hunter-McAlpine craniosynostosisMedGen
-
Homologene neighbors for GEO Profiles (Select 69870637) (0)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 69875738) (200)
GEO Profiles
-
peroxisomal sarcosine oxidase [Homo sapiens]
peroxisomal sarcosine oxidase [Homo sapiens]gi|60499001|ref|NP_057602.2|Protein
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See more...Assertion and evidence details
Last Updated: May 7, 2024