Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs139829306

CLRN1

rs139829306 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLRN1. Location: chromosome 3, position 150,690,270. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CLRN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:150690270
Cytoband
3q25.1
HGVS
NM_174878.3(CLRN1):c.226T>C (p.Leu76=)
Allele change
Synonymous_L76L

Associated conditions / phenotypes

Usher syndrome type 3

Public references

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