Variant (rsID / SNP)

rs61752062

rs61752062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RS1. Clinical significance in the table: Pathogenic.

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Reference-table entries

RS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_000330.4(RS1):c.276G>C (p.Trp92Cys)
Allele change: Silent

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.