Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs145013633

USH1C

rs145013633 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,548,863. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

USH1CConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:17548863
Cytoband
11p15.1
HGVS
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
Allele change
Missense_V135I

Associated conditions / phenotypes

Usher syndrome type 1C|Autosomal recessive nonsyndromic hearing loss 18A

Public references

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