Variant (rsID / SNP)

rs121434325

rs121434325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC8. Location: chromosome 5, position 60,200,621. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ERCC8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:60200621
Cytoband: 5q12.1
HGVS: NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
Allele change: Missense_A160V

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.