Variant (rsID / SNP)

rs4253047

rs4253047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,732,139. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ERCC6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:50732139
Cytoband: 10q11.23
HGVS: NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp)
Allele change: Missense_G446D

Associated conditions / phenotypes

Cockayne syndrome|COFS 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.