Variant (rsID / SNP)

rs111947397

rs111947397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYS. Location: chromosome 6, position 66,205,023. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EYSConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:66205023
Cytoband: 6q12
HGVS: NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)
Allele change: Missense_P94Q

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 25

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.