{{Rsnum
|rsid=55843567
|Gene=USH1C
|Chromosome=11
|position=17527331
|Orientation=plus
|GMAF=0.01469
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=USH1C
}}{{omim
|id=605242
|rsnum=55843567
|variant=0010
}}

{{ClinVar
|rsid=55843567
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=17548878
|CHROM=11
|GMAF=0.0147
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050368000000150516110100
|GENEINFO=USH1C:10083
|GENE_NAME=USH1C
|GENE_ID=10083
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.17548878C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605242.0010
|CLNSIG=5
|CLNCUI=C1848604
|CLNDBN=Usher syndrome, type 1C; AllHighlyPenetrant
|Disease=Usher syndrome; AllHighlyPenetrant
|CLNACC=RCV000005456.1; RCV000041291.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9853; 0.01469
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet; MedGen
|CLNDSDBID=NBK1265:C1848604:276904:231169:886; CN169374
|COMMON=1
}}

{{PMID|12702164}} The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

{{GET Evidence
|gene=USH1C
|aa_change=Val130Ile
|aa_change_short=V130I
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs55843567
|overall_frequency_n=179
|overall_frequency_d=10758
|overall_frequency=0.0166388
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=5
|webscore=N
|n_web_uneval=1
|variant_evidence=0
|clinical_importance=0
|summary_short=This moderately common variant (1000 genomes allele frequency of 6.2%) was reported found heterozygously in a patient with Usher syndrome. However, the high allele frequency and fact that it is a conservative amino acid change supports classifying this variant as benign.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}