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Variant (rsID / SNP)

rs143260457

ERCC6

rs143260457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,732,618. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ERCC6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:50732618
Cytoband
10q11.23
HGVS
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn)
Allele change
Missense_K286N

Associated conditions / phenotypes

Cockayne syndrome type 2|Cerebrooculofacioskeletal syndrome 1|Age related macular degeneration 5

Public references

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