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Variant (rsID / SNP)

rs41562713

ERCC6

rs41562713 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,679,030. 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
10:50679030
Cytoband
10q11.23
HGVS
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)
Allele change
Missense_I1021V

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.