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Variant (rsID / SNP)

rs121908143

CLRN1

rs121908143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLRN1. Location: chromosome 3, position 150,690,378. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLRN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:150690378
Cytoband
3q25.1
HGVS
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
Allele change
Missense_C40G

Associated conditions / phenotypes

Usher syndrome type 3|Retinal dystrophy|Usher syndrome type 3A

Public references

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