Variant (rsID / SNP)

rs111033578

rs111033578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1QTNF5, MFRP. Location: chromosome 11, position 119,210,284. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

C1QTNF5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:119210284
Cytoband: 11q23.3
HGVS: NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)
Allele change: Silent

Associated conditions / phenotypes

Late-onset retinal degeneration|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.