Variant (rsID / SNP)
rs754532049
rs754532049 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XPC. Location: chromosome 3, position 14,199,739. Clinical significance in the table: Pathogenic.
Reference-table entries
XPCPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 3:14199739
- Cytoband
- 3p25.1
- HGVS
- NM_004628.5(XPC):c.1643_1644del (p.Val548fs)
Associated conditions / phenotypes
Xeroderma pigmentosum, group C|Xeroderma pigmentosum|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.