Variant (rsID / SNP)
rs199473709
rs199473709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1QTNF5, MFRP. Location: chromosome 11, position 119,214,515. 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
- 11:119214515
- Cytoband
- 11q23.3
- HGVS
- NM_031433.4(MFRP):c.1124+11C>G
- Allele change
- Silent
Associated conditions / phenotypes
Isolated microphthalmia 6|Retinal degeneration|Isolated microphthalmia 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.