NM_001253852.3(AP4B1):c.810A>G (p.Gln270=) AND Hereditary spastic paraplegia 47
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002962615.2
Allele description [Variation Report for NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)]
NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)
Condition(s)
-
ciliary neurotrophic factor receptor subunit alpha isoform X2 [Homo sapiens]
ciliary neurotrophic factor receptor subunit alpha isoform X2 [Homo sapiens]gi|2462622591|ref|XP_054217928.1|Protein
-
CNTFR[gene] (90)
ClinVar
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024