Variant (rsID / SNP)
rs2228000
rs2228000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XPC. Location: chromosome 3, position 14,199,887. Clinical significance in the table: Benign.
Reference-table entries
XPCBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:14199887
- Cytoband
- 3p25.1
- HGVS
- NM_004628.5(XPC):c.1496C>T (p.Ala499Val)
- Allele change
- Silent
Associated conditions / phenotypes
Xeroderma pigmentosum, group C
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.