Variant (rsID / SNP)

rs137853907

rs137853907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROM1. Location: chromosome 4, position 16,002,140. Clinical significance in the table: Pathogenic.

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Reference-table entries

PROM1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:16002140
Cytoband: 4p15.32
HGVS: NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)
Allele change: Nonsense_Y519X

Associated conditions / phenotypes

Retinal dystrophy|Cone-rod dystrophy 12

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.