Variant (rsID / SNP)
rs151045328
rs151045328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,552,978. Clinical significance in the table: Pathogenic.
Reference-table entries
USH1CPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17552978
- Cytoband
- 11p15.1
- HGVS
- NM_153676.4(USH1C):c.216G>A (p.Val72=)
- Allele change
- Synonymous_V72V
Associated conditions / phenotypes
Usher syndrome type 1C|Usher syndrome type 1|Usher syndrome|Usher syndrome type 1C|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 18A|Rare genetic deafness|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.