NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln) AND Familial aplasia of the vermis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001922449.4
Allele description [Variation Report for NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln)]
NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln)
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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EC2CAA33AH10.g1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA ...
EC2CAA33AH10.g1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA clone xthr33O19 5', mRNA sequencegi|45901848|gnl|dbEST|22222341|gb|C 52.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024