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Variant (rsID / SNP)

rs140630401

IQCB1

rs140630401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IQCB1. Location: chromosome 3, position 121,491,530. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IQCB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:121491530
Cytoband
3q13.33
HGVS
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)
Allele change
Missense_E481K

Associated conditions / phenotypes

Retinitis pigmentosa|Nephronophthisis|Senior-Loken syndrome 5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.