Variant (rsID / SNP)

rs10033086

rs10033086 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROM1. Location: chromosome 4, position 16,077,401. Clinical significance in the table: Benign.

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Reference-table entries

PROM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:16077401
Cytoband: 4p15.32
HGVS: NM_006017.3(PROM1):c.129C>T (p.Thr43=)
Allele change: Synonymous_T43T

Associated conditions / phenotypes

Retinitis pigmentosa|Stargardt disease 4|Retinal macular dystrophy type 2|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.