Variant (rsID / SNP)

rs188860873

rs188860873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XPA. Location: chromosome 9, position 100,437,771. Clinical significance in the table: Uncertain significance.

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Reference-table entries

XPAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:100437771
Cytoband: 9q22.33
HGVS: NM_000380.4(XPA):c.772C>T (p.Arg258Cys)
Allele change: Silent

Associated conditions / phenotypes

Xeroderma pigmentosum group A

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.