NM_030578.4(B9D2):c.508C>G (p.Arg170Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001881777.4
Allele description [Variation Report for NM_030578.4(B9D2):c.508C>G (p.Arg170Gly)]
NM_030578.4(B9D2):c.508C>G (p.Arg170Gly)
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
-
PREDICTED: Sturnira hondurensis gamma-aminobutyric acid type A receptor subunit ...
PREDICTED: Sturnira hondurensis gamma-aminobutyric acid type A receptor subunit gamma1 (GABRG1), mRNAgi|1926993855|ref|XM_037034121.1|Nucleotide
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Last Updated: Sep 29, 2024