| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
3
|
carrier for Usher syndrome Type I allele
|
| (T;T)
|
5
|
Usher syndrome Type I
|
| ClinVar
|
| Risk
|
rs111033260(A;A) Rs111033260(T;T) |
| Alt
|
rs111033260(A;A) Rs111033260(T;T) |
| Reference
|
Rs111033260(C;C) |
| Significance |
Pathogenic |
| Disease |
Usher syndrome Usher syndrome Usher syndrome not provided Deafness Usher syndrome |
| Variation | info |
|---|
| Gene |
PCDH15 |
| CLNDBN |
Usher syndrome, type 1F Usher syndrome, type 1G Usher syndrome, type 1 not provided Deafness, autosomal recessive 23 Usher syndrome, type 1D |
| Reversed |
1 |
| HGVS |
NC_000010.10:g.56077174G>A |
| CLNSRC |
OMIM Allelic Variant |
| CLNACC |
RCV000005218.4, RCV000055970.1, RCV000218809.1, RCV000269122.1, RCV000477806.1, |
[PMID 12711741] A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
[PMID 15028842] The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
