NM_017777.4(MKS1):c.858+7G>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 18, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001408060.7
Allele description [Variation Report for NM_017777.4(MKS1):c.858+7G>C]
NM_017777.4(MKS1):c.858+7G>C
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
-
E3 ubiquitin-protein ligase TRIM63 [Homo sapiens]
E3 ubiquitin-protein ligase TRIM63 [Homo sapiens]gi|19924163|ref|NP_115977.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024