Variant (rsID / SNP)
rs11926958
rs11926958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IQCB1. Location: chromosome 3, position 121,527,826. Clinical significance in the table: Benign.
Reference-table entries
IQCB1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:121527826
- Cytoband
- 3q13.33
- HGVS
- NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu)
- Allele change
- Missense_F142L
Associated conditions / phenotypes
Nephronophthisis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.