Variant (rsID / SNP)

rs188655071

rs188655071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RXYLT1. Location: chromosome 12, position 64,178,797. Clinical significance in the table: Likely benign.

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Reference-table entries

RXYLT1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:64178797
Cytoband: 12q14.2
HGVS: NM_014254.3(RXYLT1):c.373G>C (p.Asp125His)
Allele change: Missense_D125H

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.