rs111033258
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 5 | Usher syndrome Type III |
| (G;T) | 3 | carrier of Usher syndrome Type III allele |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 150972565 |
| Gene | CLRN1, CLRN1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033258 |
| dbSNP (classic) | rs111033258 |
| ClinGen | rs111033258 |
| ebi | rs111033258 |
| HLI | rs111033258 |
| Exac | rs111033258 |
| Gnomad | rs111033258 |
| Varsome | rs111033258 |
| LitVar | rs111033258 |
| Map | rs111033258 |
| PheGenI | rs111033258 |
| Biobank | rs111033258 |
| 1000 genomes | rs111033258 |
| hgdp | rs111033258 |
| ensembl | rs111033258 |
| geneview | rs111033258 |
| scholar | rs111033258 |
| rs111033258 | |
| pharmgkb | rs111033258 |
| gwascentral | rs111033258 |
| openSNP | rs111033258 |
| 23andMe | rs111033258 |
| SNPshot | rs111033258 |
| SNPdbe | rs111033258 |
| MSV3d | rs111033258 |
| GWAS Ctlg | rs111033258 |
| Merged from | Rs28939091 |
| Max Magnitude | 5 |
rs111033258, also known as N48K or Asn48Lys, is a SNP in the clarin 1 CLRN1 gene on chromosome 3.
Most common in Ashkenazi Jews, the risk allele rs111033258(G) leads to Usher Syndrome Type III if inherited in two copies. Note that in 23andMe, the orientation is reversed from dbSNP, so the risk allele for the equivalent SNP, i4990151, is (C).
| ClinVar | |
|---|---|
| Risk | Rs111033258(G;G) |
| Alt | Rs111033258(G;G) |
| Reference | Rs111033258(T;T) |
| Significance | Pathogenic |
| Disease | Usher syndrome Retinitis pigmentosa-deafness syndrome Retinitis Pigmentosa not provided |
| Variation | info |
| Gene | CLRN1-AS1 CLRN1 |
| CLNDBN | Usher syndrome, type 3A Retinitis pigmentosa-deafness syndrome Retinitis Pigmentosa, Dominant not provided |
| Reversed | 1 |
| HGVS | NC_000003.11:g.150690352A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004645.8, RCV000296774.1, RCV000388637.1, RCV000489880.1, |
[PMID 12080385] USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
[PMID 12145752
] Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
[PMID 14569126] Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.
