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Variant (rsID / SNP)

rs2228528

ERCC6

rs2228528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,732,280. 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
10:50732280
Cytoband
10q11.23
HGVS
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
Allele change
Missense_G399D

Associated conditions / phenotypes

Macular degeneration|Cockayne syndrome|COFS syndrome|Cerebrooculofacioskeletal syndrome 1|UV-sensitive syndrome 1|Cockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME

Public references

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