NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr) AND Desbuquois dysplasia 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002790070.3
Allele description [Variation Report for NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr)]
NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr)
Condition(s)
-
Golgi-associated PDZ and coiled-coil motif-containing protein isoform a [Homo sa...
Golgi-associated PDZ and coiled-coil motif-containing protein isoform a [Homo sapiens]gi|9966877|ref|NP_065132.1|Protein
-
Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA
Homo sapiens G protein-coupled receptor 133 (GPR133), mRNAgi|38488763|ref|NM_198827.1|Nucleotide
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Last Updated: Sep 29, 2024