NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) AND Familial aplasia of the vermis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001240998.11
Allele description [Variation Report for NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)]
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
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
-
G1/S-specific cyclin-D2 [Homo sapiens]
G1/S-specific cyclin-D2 [Homo sapiens]gi|4502617|ref|NP_001750.1|Protein
-
Rb(4.14)11Tu Robertsonian translocation, Chr 4 and 14, Tubingen 11 [Mus musculus...
Rb(4.14)11Tu Robertsonian translocation, Chr 4 and 14, Tubingen 11 [Mus musculus]Gene ID:19546Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024