NM_001173990.3(TMEM216):c.34+10C>T AND Familial aplasia of the vermis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002922349.3
Allele description [Variation Report for NM_001173990.3(TMEM216):c.34+10C>T]
NM_001173990.3(TMEM216):c.34+10C>T
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
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Mus musculus keratin 6B, mRNA (cDNA clone MGC:141272 IMAGE:40057433), complete c...
Mus musculus keratin 6B, mRNA (cDNA clone MGC:141272 IMAGE:40057433), complete cdsgi|110645787|gb|BC119555.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024