NM_001034853.2(RPGR):c.2543del (p.Glu848fs) AND Retinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 24, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074135.3
Allele description [Variation Report for NM_001034853.2(RPGR):c.2543del (p.Glu848fs)]
NM_001034853.2(RPGR):c.2543del (p.Glu848fs)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
SC5D [Protobothrops mucrosquamatus]
SC5D [Protobothrops mucrosquamatus]Gene ID:107285543Gene
-
DERA [Physeter catodon]
DERA [Physeter catodon]Gene ID:102985313Gene
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024