NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln) AND Fucosidosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001924921.4
Allele description
NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln)
Condition(s)
-
butyrophilin subfamily 3 member A1 isoform X2 [Homo sapiens]
butyrophilin subfamily 3 member A1 isoform X2 [Homo sapiens]gi|2217359402|ref|XP_047274078.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023