Variant (rsID / SNP)

rs4647088

rs4647088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC8. Location: chromosome 5, position 60,214,128. Clinical significance in the table: Benign.

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Reference-table entries

ERCC8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:60214128
Cytoband: 5q12.1
HGVS: NM_000082.4(ERCC8):c.363T>C (p.Asp121=)
Allele change: Synonymous_D121D

Associated conditions / phenotypes

Cockayne syndrome type 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.