Variant (rsID / SNP)

rs116373975

rs116373975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,708,610. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ERCC6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:50708610
Cytoband: 10q11.23
HGVS: NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn)
Allele change: Missense_K553N

Associated conditions / phenotypes

Cockayne syndrome type 2|Age related macular degeneration 5|Cerebrooculofacioskeletal syndrome 1|7 conditions

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.