Variant (rsID / SNP)

rs121908141

rs121908141 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLRN1. Location: chromosome 3, position 150,659,443. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CLRN1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:150659443
Cytoband: 3q25.1
HGVS: NM_174878.3(CLRN1):c.359T>A (p.Met120Lys)
Allele change: Missense_M44K

Associated conditions / phenotypes

Usher syndrome type 3

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.