Variant (rsID / SNP)

rs121918244

rs121918244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IQCB1. Location: chromosome 3, position 121,500,619. Clinical significance in the table: Pathogenic.

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Reference-table entries

IQCB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:121500619
Cytoband: 3q13.33
HGVS: NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
Allele change: Nonsense_R461X

Associated conditions / phenotypes

Senior-Loken syndrome 5|Nephronophthisis|Retinal dystrophy|Renal dysplasia and retinal aplasia

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.