NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001075774.2
Allele description [Variation Report for NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)]
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
PREDICTED: Canis lupus familiaris cardiomyopathy associated 5 (CMYA5), mRNA
PREDICTED: Canis lupus familiaris cardiomyopathy associated 5 (CMYA5), mRNAgi|1953357236|ref|XM_038660527.1|Nucleotide
-
Mus musculus tripartite motif-containing 13 (Trim13), transcript variant 2, mRNA
Mus musculus tripartite motif-containing 13 (Trim13), transcript variant 2, mRNAgi|255982499|ref|NM_023233.3|Nucleotide
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Last Updated: Sep 29, 2024