Variant (rsID / SNP)

rs73122634

rs73122634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RXYLT1. Location: chromosome 12, position 64,174,904. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RXYLT1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:64174904
Cytoband: 12q14.2
HGVS: NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met)
Allele change: Missense_T92M

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.