Variant (rsID / SNP)

rs199537187

rs199537187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,544,992. Clinical significance in the table: Uncertain significance.

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Reference-table entries

USH1CUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:17544992
Cytoband: 11p15.1
HGVS: NM_153676.4(USH1C):c.793G>A (p.Asp265Asn)
Allele change: Missense_D265N

Associated conditions / phenotypes

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

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.