Variant (rsID / SNP)

rs57312007

rs57312007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYS. Location: chromosome 6, position 65,300,516. Clinical significance in the table: Benign.

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Reference-table entries

EYSBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:65300516
Cytoband: 6q12
HGVS: NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe)
Allele change: Missense_L1748F

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.