Variant (rsID / SNP)

rs372354156

rs372354156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYS. Location: chromosome 6, position 65,767,589. Clinical significance in the table: Pathogenic.

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Reference-table entries

EYSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:65767589
Cytoband: 6q12
HGVS: NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)
Allele change: Nonsense_C685X

Associated conditions / phenotypes

Retinitis pigmentosa

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.