Variant (rsID / SNP)

rs61754905

rs61754905 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYS, PHF3. Location: chromosome 6, position 64,430,897. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EYSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:64430897
Cytoband: 6q12
HGVS: NM_001142800.2(EYS):c.9030A>G (p.Ala3010=)
Allele change: Synonymous_A3010A

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.