Variant (rsID / SNP)

rs121908140

rs121908140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLRN1. Location: chromosome 3, position 150,645,894. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLRN1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:150645894
Cytoband: 3q25.1
HGVS: NM_174878.3(CLRN1):c.528T>G (p.Tyr176Ter)
Allele change: Nonsense_Y100X

Associated conditions / phenotypes

Usher syndrome type 3|Rare genetic deafness|Hearing impairment|Retinitis pigmentosa

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.