Variant (rsID / SNP)

rs61750648

rs61750648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,466,628. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCA4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:94466628
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)
Allele change: Missense_R2106C

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.