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Variant (rsID / SNP)

rs4253208

ERCC6

rs4253208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,678,722. 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
10:50678722
Cytoband
10q11.23
HGVS
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
Allele change
Missense_P1095R

Associated conditions / phenotypes

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