Variant (rsID / SNP)
rs187321874
rs187321874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1QTNF5, MFRP. Location: chromosome 11, position 119,215,476. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
C1QTNF5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:119215476
- Cytoband
- 11q23.3
- HGVS
- NM_031433.4(MFRP):c.773-9C>T
- Allele change
- Silent
Associated conditions / phenotypes
Retinal degeneration|Isolated microphthalmia 6|Isolated microphthalmia 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.