Variant (rsID / SNP)

rs61750147

rs61750147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,495,077. 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: 1:94495077
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)
Allele change: Missense_C1488Y

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.