NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003770364.1
Allele description [Variation Report for NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)]
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)
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
- Name:
- Orofaciodigital syndrome I (OFD1)
- Synonyms:
- OFDS I; Orofaciodigital syndrome 1; OFD syndrome 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010702; MedGen: C1510460; Orphanet: 2750; OMIM: 311200
Assertion and evidence details
Last Updated: Mar 5, 2024