NM_022166.4(XYLT1):c.1652G>A (p.Arg551His) AND Desbuquois dysplasia 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003060398.2
Allele description [Variation Report for NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)]
NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)
Condition(s)
-
Homo sapiens chromosome X, GRCh38.p14 Primary Assembly
Homo sapiens chromosome X, GRCh38.p14 Primary Assemblygi|568815575|gnl|ASM:GCF_000001305| |NC_000023.11||gpp|GPC_000001315.1||gnl|NCBI_GENOMES|23Nucleotide
-
Chromosome neighbors for GEO Profiles (Select 82335396) (21)
GEO Profiles
-
Structure for Protein (Select 1034625879) (2)
Structure
-
Concise Conserved Domain Links for Protein (Select 91208435) (1)
Conserved Domains
-
Component(Core) Links for Nucleotide (Select 1677501143) (3)
Nucleotide
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Last Updated: Apr 6, 2024