Variant (rsID / SNP)

rs883247

rs883247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1QTNF5, MFRP. Location: chromosome 11, position 119,217,254. Clinical significance in the table: Likely benign.

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Reference-table entries

C1QTNF5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:119217254
Cytoband: 11q23.3
HGVS: NM_031433.4(MFRP):c.-31G>A
Allele change: Silent

Associated conditions / phenotypes

Retinal degeneration|Isolated microphthalmia 6

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.