Variant (rsID / SNP)

rs111033434

rs111033434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLRN1. Location: chromosome 3, position 150,690,369. 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: 3:150690369
Cytoband: 3q25.1
HGVS: NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)
Allele change: Missense_G43R

Associated conditions / phenotypes

Rare genetic deafness

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.