NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) AND Familial aplasia of the vermis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000386088.20
Allele description [Variation Report for NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)]
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
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
-
hypothetical protein ZEAMMB73_Zm00001d000452 [Zea mays]
hypothetical protein ZEAMMB73_Zm00001d000452 [Zea mays]gi|1142863801|gb|ONM63273.1||gnl|WG Q|ZEAMMB73_Zm00001d000452_7Protein
-
A4GNT [Cyanistes caeruleus]
A4GNT [Cyanistes caeruleus]Gene ID:111933706Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024