Variant (rsID / SNP)

rs61750564

rs61750564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,485,247. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCA4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:94485247
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)
Allele change: Missense_S1696N

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy

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.