NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) AND Familial aplasia of the vermis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001206732.7
Allele description [Variation Report for NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val)]
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val)
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: Oct 8, 2024