NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001217523.2
Allele description [Variation Report for NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu)]
NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu)
Condition(s)
- Name:
- Familial aplasia of the vermis
- Synonyms:
- CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300
Assertion and evidence details
Last Updated: May 1, 2024