Variant (rsID / SNP)
rs1799801
rs1799801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,041,958. Clinical significance in the table: Benign.
Reference-table entries
ERCC4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:14041958
- Cytoband
- 16p13.12
- HGVS
- NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)
- Allele change
- Synonymous_S835S
Associated conditions / phenotypes
Xeroderma pigmentosum, group F|Xeroderma pigmentosum, group F|Cockayne syndrome|Fanconi anemia complementation group Q|XFE progeroid syndrome|Fanconi anemia complementation group Q
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.