NM_001173990.3(TMEM216):c.16C>G (p.Leu6Val) AND Familial aplasia of the vermis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002622885.2
Allele description [Variation Report for NM_001173990.3(TMEM216):c.16C>G (p.Leu6Val)]
NM_001173990.3(TMEM216):c.16C>G (p.Leu6Val)
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
-
uncharacterized protein LOC111433002 [Cucurbita moschata]
uncharacterized protein LOC111433002 [Cucurbita moschata]gi|1279830804|ref|XP_022925647.1|Protein
-
PREDICTED: uncharacterized protein LOC103327614 [Prunus mume]
PREDICTED: uncharacterized protein LOC103327614 [Prunus mume]gi|645243875|ref|XP_008228176.1|Protein
-
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Last Updated: Sep 29, 2024