Variant (rsID / SNP)

rs201940931

rs201940931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XPC. Location: chromosome 3, position 14,207,087. Clinical significance in the table: Pathogenic.

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Reference-table entries

XPCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:14207087
Cytoband: 3p25.1
HGVS: NM_004628.5(XPC):c.622-2A>C
Allele change: Silent

Associated conditions / phenotypes

Xeroderma pigmentosum, group C|Xeroderma pigmentosum

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.