LOVD-USHBases

LOVD - Variant listings for CLRN1

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Patient data (#0003629)
Patient ID FR011018RP16112
Disease Usher type II (USH2)
Reference Besnard, Garcia-Garcia et al., 2014
Template DNA
Technique SEQ, SEQ-NG-S
Remarks Proband
# Reported 1
Gender -
Geographic origin SPAIN
Submitter Anne-Fran├žoise Roux

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Location Exon
Exon 01
DNA change c.67G>T   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Gly23*)
Protein Domain Transmembrane 1 (8-28)
Inheritance Homozygous
Variant remarks Pathogenic
dbSNP/RFC -
Reference Besnard, Garcia-Garcia et al., 2014
Reported effect / publication -
Frequency -
Missense -
HSF HSF
Re-site +BspCNI;+DdeI;
DB-ID CLRN1_00035
Genomic DNA change g.150690429C>A

2 entries in CLRN1

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
Genomic DNA change Descending
Ascending
+/+ Paternal (inferred) Exon 01 c.67G>T r.(?) p.(Gly23*) Transmembrane 1 (8-28) Homozygous Pathogenic - Besnard, Garcia-Garcia et al., 2014 - - - HSF +BspCNI;+DdeI; CLRN1_00035 g.150690429C>A
+/+ Maternal (inferred) Exon 01 c.67G>T r.(?) p.(Gly23*) Transmembrane 1 (8-28) Homozygous Pathogenic - Besnard, Garcia-Garcia et al., 2014 - - - HSF +BspCNI;+DdeI; CLRN1_00035 g.150690429C>A