Variant (rsID / SNP)

rs4253231

rs4253231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,666,808. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ERCC6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:50666808
Cytoband: 10q11.23
HGVS: NM_000124.4(ERCC6):c.*53T>C
Allele change: Silent

Associated conditions / phenotypes

COFS syndrome|Cockayne syndrome|Macular degeneration

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.