Variant (rsID / SNP)

rs61748520

rs61748520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,466,602. 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: 1:94466602
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
Allele change: Synonymous_V2114V

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|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.