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Variant (rsID / SNP)

rs139050119

ABCA4

rs139050119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,543,300. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCA4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:94543300
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
Allele change
Synonymous_R500R

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.