Variant (rsID / SNP)

rs4253227

rs4253227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,667,229. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ERCC6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:50667229
Cytoband: 10q11.23
HGVS: NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg)
Allele change: Missense_G1372R

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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