Variant (rsID / SNP)

rs183238369

rs183238369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XPC. Location: chromosome 3, position 14,199,603. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

XPCConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:14199603
Cytoband: 3p25.1
HGVS: NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)
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.