Variant (rsID / SNP)

rs74993523

rs74993523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XYLT1. Location: chromosome 16, position 17,353,337. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

XYLT1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:17353337
Cytoband: 16p12.3
HGVS: NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp)
Allele change: Missense_R141W

Associated conditions / phenotypes

Desbuquois dysplasia 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.