NM_145054.5(CFAP52):c.1752G>A (p.Val584=) AND Situs inversus
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 24, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000655457.7
Allele description [Variation Report for NM_145054.5(CFAP52):c.1752G>A (p.Val584=)]
NM_145054.5(CFAP52):c.1752G>A (p.Val584=)
Condition(s)
- Name:
- Situs inversus
- Synonyms:
- Situs inversus totalis
- Identifiers:
- MONDO: MONDO:0010029; MedGen: C4551493; Human Phenotype Ontology: HP:0001696
Assertion and evidence details
Last Updated: Apr 15, 2024