Variant (rsID / SNP)

rs387907009

rs387907009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IQCB1. Location: chromosome 3, position 121,509,013. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IQCB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:121509013
Cytoband: 3q13.33
HGVS: NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
Allele change: Nonsense_E346X

Associated conditions / phenotypes

Senior-Loken syndrome 5|Nephronophthisis|Leber congenital amaurosis

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.