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Variant (rsID / SNP)

rs61760166

ERCC6

rs61760166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,678,356. 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
10:50678356
Cytoband
10q11.23
HGVS
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)
Allele change
Missense_F1217C

Associated conditions / phenotypes

Cerebrooculofacioskeletal syndrome 1|Cockayne syndrome type 2|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.