Variant (rsID / SNP)
rs4986933
rs4986933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC4. Location: chromosome 16, position 14,042,032. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ERCC4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:14042032
- Cytoband
- 16p13.12
- HGVS
- NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)
- Allele change
- Missense_A860D
Associated conditions / phenotypes
Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome|Xeroderma pigmentosum, group F|Hutchinson-Gilford syndrome|Xeroderma pigmentosum
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.