NM_001378615.1(CC2D2A):c.507T>C (p.His169=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003783355.1
Allele description [Variation Report for NM_001378615.1(CC2D2A):c.507T>C (p.His169=)]
NM_001378615.1(CC2D2A):c.507T>C (p.His169=)
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 LOC103491632 [Cucumis melo]
uncharacterized protein LOC103491632 [Cucumis melo]gi|659097935|ref|XP_008449889.1|Protein
-
91673[uid] AND (alive[prop]) (0)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024