Variant (rsID / SNP)
rs373227647
rs373227647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,680,518. Clinical significance in the table: Pathogenic.
Reference-table entries
ERCC6Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:50680518
- Cytoband
- 10q11.23
- HGVS
- NM_000124.4(ERCC6):c.2830-2A>G
- Allele change
- Silent
Associated conditions / phenotypes
Cockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME|7 conditions
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.