Variant (rsID / SNP)

rs1141528

rs1141528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IQCB1. Location: chromosome 3, position 121,507,231. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IQCB1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:121507231
Cytoband: 3q13.33
HGVS: NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)
Allele change: Missense_I393N

Associated conditions / phenotypes

Nephronophthisis|Senior-Loken syndrome 5

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.