NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001305618.8
Allele description [Variation Report for NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys)]
NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys)
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
-
kif5aa kinesin family member 5A, a [Danio rerio]
kif5aa kinesin family member 5A, a [Danio rerio]Gene ID:566086Gene
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Gene Links for GEO Profiles (Select 123219087) (1)
Gene
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Last Updated: Sep 29, 2024