Variant (rsID / SNP)

rs121917904

rs121917904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,690,855. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ERCC6Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:50690855
Cytoband: 10q11.23
HGVS: NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)
Allele change: Nonsense_R683X

Associated conditions / phenotypes

Cerebrooculofacioskeletal syndrome 1|ERCC6-Related Disorders|DE SANCTIS-CACCHIONE SYNDROME

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.