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Variant (rsID / SNP)

rs745327804

RXYLT1

rs745327804 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RXYLT1. Location: chromosome 12, position 64,174,879. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RXYLT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:64174879
Cytoband
12q14.2
HGVS
NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly)
Allele change
Missense_S84G

Public references

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