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Variant (rsID / SNP)

rs201813523

ERCC6

rs201813523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,666,950. 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
10:50666950
Cytoband
10q11.23
HGVS
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile)
Allele change
Missense_V1465I

Associated conditions / phenotypes

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

Public references

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