NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) AND Retinal dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Oct 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003888677.1
Allele description [Variation Report for NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)]
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
Assertion and evidence details
Last Updated: Nov 10, 2024